Canonical Allele Identifier: CA1239353526

Gene: DTNB DTNB-AS1

Linked Data

• dbSNP Id: rs6746082

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25436375A>G , CM000664.2:g.25436375A>G	GRCh38
NC_000002.11:g.25659244A>G , CM000664.1:g.25659244A>G	GRCh37
NC_000002.10:g.25512748A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000406818.8:c.1258-2380T>C (DTNB) MANE Select	ENSP00000384084.3:n.1258-2380T>C
ENST00000495466.6:n.1392-2380T>C (DTNB)
ENST00000288642.12:c.1258-2380T>C (DTNB)	ENSP00000288642.9:n.1258-2380T>C
ENST00000356599.9:c.*521-2380T>C (DTNB)	ENSP00000349007.5:n.*521-2380T>C
ENST00000398951.6:c.*653-2380T>C (DTNB)	ENSP00000381924.2:n.*653-2380T>C
ENST00000404103.7:c.1258-2380T>C (DTNB)	ENSP00000385482.3:n.1258-2380T>C
ENST00000405222.5:c.1168-2380T>C (DTNB)	ENSP00000384787.1:n.1168-2380T>C
ENST00000406818.7:c.1258-2380T>C (DTNB)	ENSP00000384084.3:n.1258-2380T>C
ENST00000407038.7:c.1168-2380T>C (DTNB)	ENSP00000384767.3:n.1168-2380T>C
ENST00000407186.5:c.1168-2380T>C (DTNB)	ENSP00000385784.1:n.1168-2380T>C
ENST00000407661.7:c.1258-2380T>C (DTNB)	ENSP00000385193.3:n.1258-2380T>C
ENST00000479898.5:n.224-2380T>C (DTNB)
ENST00000481841.5:n.227-2380T>C (DTNB)
ENST00000482145.5:n.334-2380T>C (DTNB)
ENST00000485845.5:n.1258-2380T>C (DTNB)
ENST00000486555.5:n.451-2380T>C (DTNB)
ENST00000489756.1:n.489-2380T>C (DTNB)
ENST00000496972.6:c.1087-2380T>C (DTNB)	ENSP00000444463.1:n.1087-2380T>C
NM_001256303.1:c.1258-2380T>C (DTNB)	NP_001243232.1:n.1258-2380T>C
NM_001256304.1:c.1258-2380T>C (DTNB)	NP_001243233.1:n.1258-2380T>C
NM_001256308.1:c.1087-2380T>C (DTNB)	NP_001243237.1:n.1087-2380T>C
NM_021907.4:c.1258-2380T>C (DTNB)	NP_068707.1:n.1258-2380T>C
NM_033147.3:c.1258-2380T>C (DTNB)	NP_149159.2:n.1258-2380T>C
NM_033148.3:c.1168-2380T>C (DTNB)	NP_149160.1:n.1168-2380T>C
NM_183360.2:c.1258-2380T>C (DTNB)	NP_899204.1:n.1258-2380T>C
NM_183361.2:c.1168-2380T>C (DTNB)	NP_899205.1:n.1168-2380T>C
XM_005264182.1:c.1258-2380T>C (DTNB)	XP_005264239.1:n.1258-2380T>C
XM_005264183.1:c.1168-2380T>C (DTNB)	XP_005264240.1:n.1168-2380T>C
XM_005264184.1:c.1168-2380T>C (DTNB)	XP_005264241.1:n.1168-2380T>C
XM_011532671.1:c.1258-2380T>C (DTNB)	XP_011530973.1:n.1258-2380T>C
XM_011532672.1:c.1258-2380T>C (DTNB)	XP_011530974.1:n.1258-2380T>C
XM_011532673.1:c.1258-2380T>C (DTNB)	XP_011530975.1:n.1258-2380T>C
XM_011532674.1:c.1258-2380T>C (DTNB)	XP_011530976.1:n.1258-2380T>C
XM_011532675.1:c.1258-2380T>C (DTNB)	XP_011530977.1:n.1258-2380T>C
XM_011532676.1:c.1168-2380T>C (DTNB)	XP_011530978.1:n.1168-2380T>C
XM_011532677.1:c.1087-2380T>C (DTNB)	XP_011530979.1:n.1087-2380T>C
XM_011532678.1:c.1258-2380T>C (DTNB)	XP_011530980.1:n.1258-2380T>C
XM_011532679.1:c.1258-2380T>C (DTNB)	XP_011530981.1:n.1258-2380T>C
XM_011532680.1:c.817-2380T>C (DTNB)	XP_011530982.1:n.817-2380T>C
XM_011532681.1:c.817-2380T>C (DTNB)	XP_011530983.1:n.817-2380T>C
XR_939672.1:n.1438-2380T>C (DTNB)
XR_939845.1:n.495-3945A>G (DTNB-AS1)
XR_939846.1:n.495-3945A>G (DTNB-AS1)
NM_001256304.2:c.1258-2380T>C (DTNB)	NP_001243233.1:n.1258-2380T>C
NM_001256308.2:c.1087-2380T>C (DTNB)	NP_001243237.1:n.1087-2380T>C
NM_001320932.1:c.646-2380T>C (DTNB)	NP_001307861.1:n.646-2380T>C
NM_001320933.1:c.1168-2380T>C (DTNB)	NP_001307862.1:n.1168-2380T>C
NM_001320934.1:c.1168-2380T>C (DTNB)	NP_001307863.1:n.1168-2380T>C
NM_001320935.1:c.646-2380T>C (DTNB)	NP_001307864.1:n.646-2380T>C
NM_001320936.1:c.1258-2380T>C (DTNB)	NP_001307865.1:n.1258-2380T>C
NM_001351381.1:c.727-2380T>C (DTNB)	NP_001338310.1:n.727-2380T>C
NM_001351382.1:c.1168-2380T>C (DTNB)	NP_001338311.1:n.1168-2380T>C
NM_001351383.1:c.1168-2380T>C (DTNB)	NP_001338312.1:n.1168-2380T>C
NM_001351384.1:c.1258-2380T>C (DTNB)	NP_001338313.1:n.1258-2380T>C
NM_001351385.1:c.1168-2380T>C (DTNB)	NP_001338314.1:n.1168-2380T>C
NM_001351386.1:c.1168-2380T>C (DTNB)	NP_001338315.1:n.1168-2380T>C
NM_001351387.1:c.1168-2380T>C (DTNB)	NP_001338316.1:n.1168-2380T>C
NM_001351388.1:c.1258-2380T>C (DTNB)	NP_001338317.1:n.1258-2380T>C
NM_001351389.1:c.1168-2380T>C (DTNB)	NP_001338318.1:n.1168-2380T>C
NM_001351390.1:c.1168-2380T>C (DTNB)	NP_001338319.1:n.1168-2380T>C
NM_001351391.1:c.1168-2380T>C (DTNB)	NP_001338320.1:n.1168-2380T>C
NM_001351392.1:c.727-2380T>C (DTNB)	NP_001338321.1:n.727-2380T>C
NM_001351393.1:c.727-2380T>C (DTNB)	NP_001338322.1:n.727-2380T>C
NM_001351394.1:c.1258-2380T>C (DTNB)	NP_001338323.1:n.1258-2380T>C
NM_001351395.1:c.343-2380T>C (DTNB)	NP_001338324.1:n.343-2380T>C
NR_147180.1:n.1431-2380T>C (DTNB)
XM_011532672.2:c.1258-2380T>C (DTNB)	XP_011530974.1:n.1258-2380T>C
XM_011532677.2:c.1087-2380T>C (DTNB)	XP_011530979.1:n.1087-2380T>C
XM_011532680.3:c.817-2380T>C (DTNB)	XP_011530982.1:n.817-2380T>C
XM_011532681.2:c.817-2380T>C (DTNB)	XP_011530983.1:n.817-2380T>C
XM_017003529.1:c.1168-2380T>C (DTNB)	XP_016859018.1:n.1168-2380T>C
XM_017003530.2:c.1168-2380T>C (DTNB)	XP_016859019.1:n.1168-2380T>C
XM_017003538.2:c.817-2380T>C (DTNB)	XP_016859027.1:n.817-2380T>C
XM_017003539.2:c.727-2380T>C (DTNB)	XP_016859028.1:n.727-2380T>C
XM_017003542.2:c.556-2380T>C (DTNB)	XP_016859031.1:n.556-2380T>C
XM_017003543.2:c.556-2380T>C (DTNB)	XP_016859032.1:n.556-2380T>C
XM_017003544.2:c.556-2380T>C (DTNB)	XP_016859033.1:n.556-2380T>C
XM_017003545.2:c.556-2380T>C (DTNB)	XP_016859034.1:n.556-2380T>C
XM_024452740.1:c.817-2380T>C (DTNB)	XP_024308508.1:n.817-2380T>C
XM_024452741.1:c.646-2380T>C (DTNB)	XP_024308509.1:n.646-2380T>C
XM_024452742.1:c.646-2380T>C (DTNB)	XP_024308510.1:n.646-2380T>C
XM_024452743.1:c.646-2380T>C (DTNB)	XP_024308511.1:n.646-2380T>C
XR_001738659.2:n.1348-2380T>C (DTNB)
XR_001739342.1:n.115-3945A>G (DTNB-AS1)
XR_939672.3:n.1438-2380T>C (DTNB)
XR_939845.2:n.122-3945A>G (DTNB-AS1)
NM_001351389.2:c.1168-2380T>C (DTNB)	NP_001338318.1:n.1168-2380T>C
NM_001351391.2:c.1168-2380T>C (DTNB)	NP_001338320.1:n.1168-2380T>C
NM_001256303.2:c.1258-2380T>C (DTNB)	NP_001243232.1:n.1258-2380T>C
NM_001256304.3:c.1258-2380T>C (DTNB)	NP_001243233.1:n.1258-2380T>C
NM_001320932.2:c.646-2380T>C (DTNB)	NP_001307861.1:n.646-2380T>C
NM_001320933.2:c.1168-2380T>C (DTNB)	NP_001307862.1:n.1168-2380T>C
NM_001320934.2:c.1168-2380T>C (DTNB)	NP_001307863.1:n.1168-2380T>C
NM_001320935.2:c.646-2380T>C (DTNB)	NP_001307864.1:n.646-2380T>C
NM_001320936.2:c.1258-2380T>C (DTNB)	NP_001307865.1:n.1258-2380T>C
NM_001351381.2:c.727-2380T>C (DTNB)	NP_001338310.1:n.727-2380T>C
NM_001351382.2:c.1168-2380T>C (DTNB)	NP_001338311.1:n.1168-2380T>C
NM_001351383.2:c.1168-2380T>C (DTNB)	NP_001338312.1:n.1168-2380T>C
NM_001351384.2:c.1258-2380T>C (DTNB)	NP_001338313.1:n.1258-2380T>C
NM_001351385.2:c.1168-2380T>C (DTNB)	NP_001338314.1:n.1168-2380T>C
NM_001351386.2:c.1168-2380T>C (DTNB)	NP_001338315.1:n.1168-2380T>C
NM_001351387.2:c.1168-2380T>C (DTNB)	NP_001338316.1:n.1168-2380T>C
NM_001351388.2:c.1258-2380T>C (DTNB)	NP_001338317.1:n.1258-2380T>C
NM_001351390.2:c.1168-2380T>C (DTNB)	NP_001338319.1:n.1168-2380T>C
NM_001351392.2:c.727-2380T>C (DTNB)	NP_001338321.1:n.727-2380T>C
NM_001351393.2:c.727-2380T>C (DTNB)	NP_001338322.1:n.727-2380T>C
NM_001351394.2:c.1258-2380T>C (DTNB)	NP_001338323.1:n.1258-2380T>C
NM_001351395.2:c.343-2380T>C (DTNB)	NP_001338324.1:n.343-2380T>C
NM_021907.5:c.1258-2380T>C (DTNB) MANE Select	NP_068707.1:n.1258-2380T>C
NM_033147.4:c.1258-2380T>C (DTNB)	NP_149159.2:n.1258-2380T>C
NM_033148.4:c.1168-2380T>C (DTNB)	NP_149160.1:n.1168-2380T>C
NM_183360.3:c.1258-2380T>C (DTNB)	NP_899204.1:n.1258-2380T>C
NM_183361.3:c.1168-2380T>C (DTNB)	NP_899205.1:n.1168-2380T>C
NR_147180.2:n.1361-2380T>C (DTNB)
NM_001394686.1:c.817-2380T>C (DTNB)	NP_001381615.1:n.817-2380T>C