Canonical Allele Identifier: CA767206923
Gene: DTNB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25410373T>A , CM000664.2:g.25410373T>A GRCh38
NC_000002.11:g.25633242T>A , CM000664.1:g.25633242T>A GRCh37
NC_000002.10:g.25486746T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000406818.8:c.1575+9142A>T MANE Select ENSP00000384084.3:n.1575+9142A>T
ENST00000495466.6:n.1709+9142A>T
ENST00000288642.12:c.1554+17162A>T ENSP00000288642.9:n.1554+17162A>T
ENST00000356599.9:c.*817+17162A>T ENSP00000349007.5:n.*817+17162A>T
ENST00000398951.6:c.*949+17162A>T ENSP00000381924.2:n.*949+17162A>T
ENST00000404103.7:c.1575+9142A>T ENSP00000385482.3:n.1575+9142A>T
ENST00000405222.5:c.1464+17162A>T ENSP00000384787.1:n.1464+17162A>T
ENST00000406818.7:c.1575+9142A>T ENSP00000384084.3:n.1575+9142A>T
ENST00000407038.7:c.1485+9142A>T ENSP00000384767.3:n.1485+9142A>T
ENST00000407186.5:c.1464+17162A>T ENSP00000385784.1:n.1464+17162A>T
ENST00000407661.7:c.1575+9142A>T ENSP00000385193.3:n.1575+9142A>T
ENST00000479898.5:n.520+17162A>T
ENST00000481841.5:n.523+17162A>T
ENST00000482145.5:n.630+17162A>T
ENST00000489949.5:n.482+17162A>T
ENST00000496972.6:c.1383+17162A>T ENSP00000444463.1:n.1383+17162A>T
NM_001256303.1:c.1554+17162A>T NP_001243232.1:n.1554+17162A>T
NM_001256304.1:c.1554+17162A>T NP_001243233.1:n.1554+17162A>T
NM_001256308.1:c.1383+17162A>T NP_001243237.1:n.1383+17162A>T
NM_021907.4:c.1575+9142A>T NP_068707.1:n.1575+9142A>T
NM_033147.3:c.1575+9142A>T NP_149159.2:n.1575+9142A>T
NM_033148.3:c.1485+9142A>T NP_149160.1:n.1485+9142A>T
NM_183360.2:c.1575+9142A>T NP_899204.1:n.1575+9142A>T
NM_183361.2:c.1464+17162A>T NP_899205.1:n.1464+17162A>T
XM_005264182.1:c.1554+17162A>T XP_005264239.1:n.1554+17162A>T
XM_005264183.1:c.1485+9142A>T XP_005264240.1:n.1485+9142A>T
XM_005264184.1:c.1464+17162A>T XP_005264241.1:n.1464+17162A>T
XM_011532671.1:c.1593+9142A>T XP_011530973.1:n.1593+9142A>T
XM_011532672.1:c.1593+9142A>T XP_011530974.1:n.1593+9142A>T
XM_011532673.1:c.1572+17162A>T XP_011530975.1:n.1572+17162A>T
XM_011532674.1:c.1593+9142A>T XP_011530976.1:n.1593+9142A>T
XM_011532675.1:c.1572+17162A>T XP_011530977.1:n.1572+17162A>T
XM_011532676.1:c.1503+9142A>T XP_011530978.1:n.1503+9142A>T
XM_011532677.1:c.1422+9142A>T XP_011530979.1:n.1422+9142A>T
XM_011532678.1:c.1593+9142A>T XP_011530980.1:n.1593+9142A>T
XM_011532680.1:c.1152+9142A>T XP_011530982.1:n.1152+9142A>T
XM_011532681.1:c.1134+9142A>T XP_011530983.1:n.1134+9142A>T
XR_939672.1:n.1773+9142A>T
NM_001256304.2:c.1554+17162A>T NP_001243233.1:n.1554+17162A>T
NM_001256308.2:c.1383+17162A>T NP_001243237.1:n.1383+17162A>T
NM_001320932.1:c.942+17162A>T NP_001307861.1:n.942+17162A>T
NM_001320933.1:c.1464+17162A>T NP_001307862.1:n.1464+17162A>T
NM_001320934.1:c.1485+9142A>T NP_001307863.1:n.1485+9142A>T
NM_001320935.1:c.942+17162A>T NP_001307864.1:n.942+17162A>T
NM_001320936.1:c.1575+9142A>T NP_001307865.1:n.1575+9142A>T
NM_001351381.1:c.1044+9142A>T NP_001338310.1:n.1044+9142A>T
NM_001351382.1:c.1485+9142A>T NP_001338311.1:n.1485+9142A>T
NM_001351383.1:c.1503+9142A>T NP_001338312.1:n.1503+9142A>T
NM_001351384.1:c.1554+17162A>T NP_001338313.1:n.1554+17162A>T
NM_001351385.1:c.1482+17162A>T NP_001338314.1:n.1482+17162A>T
NM_001351386.1:c.1464+17162A>T NP_001338315.1:n.1464+17162A>T
NM_001351387.1:c.1503+9142A>T NP_001338316.1:n.1503+9142A>T
NM_001351388.1:c.1575+9142A>T NP_001338317.1:n.1575+9142A>T
NM_001351390.1:c.1485+9142A>T NP_001338319.1:n.1485+9142A>T
NM_001351391.1:c.1464+17162A>T NP_001338320.1:n.1464+17162A>T
NM_001351392.1:c.1044+9142A>T NP_001338321.1:n.1044+9142A>T
NM_001351393.1:c.1044+9142A>T NP_001338322.1:n.1044+9142A>T
NM_001351394.1:c.1575+9142A>T NP_001338323.1:n.1575+9142A>T
NM_001351395.1:c.639+17162A>T NP_001338324.1:n.639+17162A>T
NR_147180.1:n.1748+9142A>T
XM_011532672.2:c.1593+9142A>T XP_011530974.1:n.1593+9142A>T
XM_011532677.2:c.1422+9142A>T XP_011530979.1:n.1422+9142A>T
XM_011532680.3:c.1152+9142A>T XP_011530982.1:n.1152+9142A>T
XM_011532681.2:c.1134+9142A>T XP_011530983.1:n.1134+9142A>T
XM_017003529.1:c.1482+17162A>T XP_016859018.1:n.1482+17162A>T
XM_017003530.2:c.1464+17162A>T XP_016859019.1:n.1464+17162A>T
XM_017003538.2:c.1113+17162A>T XP_016859027.1:n.1113+17162A>T
XM_017003539.2:c.1062+9142A>T XP_016859028.1:n.1062+9142A>T
XM_017003542.2:c.891+9142A>T XP_016859031.1:n.891+9142A>T
XM_017003543.2:c.891+9142A>T XP_016859032.1:n.891+9142A>T
XM_017003544.2:c.873+9142A>T XP_016859033.1:n.873+9142A>T
XM_017003545.2:c.873+9142A>T XP_016859034.1:n.873+9142A>T
XM_024452740.1:c.1113+17162A>T XP_024308508.1:n.1113+17162A>T
XM_024452741.1:c.981+9142A>T XP_024308509.1:n.981+9142A>T
XM_024452742.1:c.981+9142A>T XP_024308510.1:n.981+9142A>T
XM_024452743.1:c.963+9142A>T XP_024308511.1:n.963+9142A>T
XR_001738659.2:n.1644+17162A>T
XR_939672.3:n.1773+9142A>T
NM_001351391.2:c.1464+17162A>T NP_001338320.1:n.1464+17162A>T
NM_001256303.2:c.1554+17162A>T NP_001243232.1:n.1554+17162A>T
NM_001256304.3:c.1554+17162A>T NP_001243233.1:n.1554+17162A>T
NM_001320932.2:c.942+17162A>T NP_001307861.1:n.942+17162A>T
NM_001320933.2:c.1464+17162A>T NP_001307862.1:n.1464+17162A>T
NM_001320934.2:c.1485+9142A>T NP_001307863.1:n.1485+9142A>T
NM_001320935.2:c.942+17162A>T NP_001307864.1:n.942+17162A>T
NM_001320936.2:c.1575+9142A>T NP_001307865.1:n.1575+9142A>T
NM_001351381.2:c.1044+9142A>T NP_001338310.1:n.1044+9142A>T
NM_001351382.2:c.1485+9142A>T NP_001338311.1:n.1485+9142A>T
NM_001351383.2:c.1503+9142A>T NP_001338312.1:n.1503+9142A>T
NM_001351384.2:c.1554+17162A>T NP_001338313.1:n.1554+17162A>T
NM_001351385.2:c.1482+17162A>T NP_001338314.1:n.1482+17162A>T
NM_001351386.2:c.1464+17162A>T NP_001338315.1:n.1464+17162A>T
NM_001351387.2:c.1503+9142A>T NP_001338316.1:n.1503+9142A>T
NM_001351388.2:c.1575+9142A>T NP_001338317.1:n.1575+9142A>T
NM_001351390.2:c.1485+9142A>T NP_001338319.1:n.1485+9142A>T
NM_001351392.2:c.1044+9142A>T NP_001338321.1:n.1044+9142A>T
NM_001351393.2:c.1044+9142A>T NP_001338322.1:n.1044+9142A>T
NM_001351394.2:c.1575+9142A>T NP_001338323.1:n.1575+9142A>T
NM_001351395.2:c.639+17162A>T NP_001338324.1:n.639+17162A>T
NM_021907.5:c.1575+9142A>T MANE Select NP_068707.1:n.1575+9142A>T
NM_033147.4:c.1575+9142A>T NP_149159.2:n.1575+9142A>T
NM_033148.4:c.1485+9142A>T NP_149160.1:n.1485+9142A>T
NM_183360.3:c.1575+9142A>T NP_899204.1:n.1575+9142A>T
NM_183361.3:c.1464+17162A>T NP_899205.1:n.1464+17162A>T
NR_147180.2:n.1678+9142A>T
NM_001394686.1:c.1113+17162A>T NP_001381615.1:n.1113+17162A>T
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