Canonical Allele Identifier: CA411648692

Gene: ADSL

Linked Data

• MyVariant Identifiers: chr22:g.40761044G>C (hg19) ; chr22:g.40365040G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40365040G>C , CM000684.2:g.40365040G>C	GRCh38
NC_000022.10:g.40761044G>C , CM000684.1:g.40761044G>C	GRCh37
NC_000022.9:g.39090990G>C	NCBI36
NG_007993.1:g.23541G>C
NG_007993.2:g.23541G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*746G>C	ENSP00000485462.2:n.*746G>C
ENST00000623287.4:c.*777G>C	ENSP00000485437.1:n.*777G>C
ENST00000623632.4:c.1043G>C	ENSP00000485288.2:p.Gly348Ala
ENST00000625194.4:c.1394G>C	ENSP00000485289.2:p.Gly465Ala
ENST00000636433.1:n.1374G>C
ENST00000636714.1:c.1352G>C	ENSP00000490946.1:p.Gly451Ala
ENST00000637666.2:c.1191+675G>C	ENSP00000489696.2:n.1191+675G>C
ENST00000637669.1:c.1352G>C	ENSP00000489728.1:p.Gly451Ala
ENST00000639722.1:c.*1048G>C	ENSP00000492828.1:n.*1048G>C
ENST00000674592.1:n.2866G>C
ENST00000675622.1:n.4419G>C
ENST00000679609.1:c.*962G>C	ENSP00000506592.1:n.*962G>C
ENST00000679656.1:n.2037G>C
ENST00000679723.1:c.1307G>C	ENSP00000505155.1:p.Gly436Ala
ENST00000679845.1:n.1660G>C
ENST00000679904.1:n.1748G>C
ENST00000680378.1:c.1439G>C	ENSP00000505556.1:p.Gly480Ala
ENST00000680444.1:c.*715G>C	ENSP00000505298.1:n.*715G>C
ENST00000680978.1:c.1352G>C	ENSP00000505244.1:p.Gly451Ala
ENST00000681003.1:n.815G>C
ENST00000681159.1:n.2756G>C
ENST00000216194.11:c.1394G>C	ENSP00000216194.8:p.Gly465Ala
ENST00000342312.9:c.1191+675G>C	ENSP00000341429.6:n.1191+675G>C
ENST00000423176.6:c.79G>C
ENST00000498234.2:c.10G>C
ENST00000623063.3:c.1352G>C MANE Select	ENSP00000485525.1:p.Gly451Ala
ENST00000623387.1:n.483G>C
ENST00000623869.3:c.83G>C	ENSP00000485211.1:p.Gly28Ala
ENST00000624027.1:c.79G>C
ENST00000625194.3:c.981G>C
NM_000026.2:c.1352G>C	NP_000017.1:p.Gly451Ala
NM_001123378.1:c.1191+675G>C	NP_001116850.1:n.1191+675G>C
XM_011529976.1:c.1352G>C	XP_011528278.1:p.Gly451Ala
XM_011529977.1:c.1352G>C	XP_011528279.1:p.Gly451Ala
XM_011529978.1:c.1191+675G>C	XP_011528280.1:n.1191+675G>C
XM_011529979.1:c.1352G>C	XP_011528281.1:p.Gly451Ala
XM_011529980.1:c.1191+675G>C	XP_011528282.1:n.1191+675G>C
XM_011529981.1:c.887G>C	XP_011528283.1:p.Gly296Ala
XM_011529982.1:c.521G>C	XP_011528284.1:p.Gly174Ala
XR_937824.1:n.1442G>C
XR_937825.1:n.1281+675G>C
NM_000026.3:c.1352G>C	NP_000017.1:p.Gly451Ala
NM_001123378.2:c.1191+675G>C	NP_001116850.1:n.1191+675G>C
NM_001317923.1:c.1160G>C	NP_001304852.1:p.Gly387Ala
NM_001363840.1:c.1352G>C	NP_001350769.1:p.Gly451Ala
NR_134256.1:n.1442G>C
XM_011529977.3:c.1352G>C	XP_011528279.1:p.Gly451Ala
XM_011529980.3:c.1191+675G>C	XP_011528282.1:n.1191+675G>C
XM_017028636.1:c.1307G>C	XP_016884125.1:p.Gly436Ala
XM_017028637.1:c.1307G>C	XP_016884126.1:p.Gly436Ala
XM_017028638.1:c.887G>C	XP_016884127.1:p.Gly296Ala
XM_017028639.2:c.887G>C	XP_016884128.1:p.Gly296Ala
XM_017028640.1:c.521G>C	XP_016884129.1:p.Gly174Ala
XM_024452166.1:c.1146+675G>C	XP_024307934.1:n.1146+675G>C
XR_001755176.2:n.1594G>C
XR_002958670.1:n.1379G>C
XR_937825.3:n.1279+675G>C
NM_000026.4:c.1352G>C MANE Select	NP_000017.1:p.Gly451Ala
NM_001363840.2:c.1352G>C	NP_001350769.1:p.Gly451Ala
NM_001123378.3:c.1191+675G>C	NP_001116850.1:n.1191+675G>C
NM_001317923.2:c.1160G>C	NP_001304852.1:p.Gly387Ala
NM_001363840.3:c.1352G>C	NP_001350769.1:p.Gly451Ala
NR_134256.2:n.1442G>C