Canonical Allele Identifier: CA411647530

Gene: ADSL

Linked Data

• dbSNP Id: rs1235290993
• gnomAD v2: 22-40760894-A-G
• gnomAD v4: 22-40364890-A-G
• MyVariant Identifiers: chr22:g.40760894A>G (hg19) ; chr22:g.40364890A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40364890A>G , CM000684.2:g.40364890A>G	GRCh38
NC_000022.10:g.40760894A>G , CM000684.1:g.40760894A>G	GRCh37
NC_000022.9:g.39090840A>G	NCBI36
NG_007993.1:g.23391A>G
NG_007993.2:g.23391A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*596A>G	ENSP00000485462.2:n.*596A>G
ENST00000623287.4:c.*627A>G	ENSP00000485437.1:n.*627A>G
ENST00000623632.4:c.893A>G	ENSP00000485288.2:p.Glu298Gly
ENST00000625194.4:c.1244A>G	ENSP00000485289.2:p.Glu415Gly
ENST00000636433.1:n.1224A>G
ENST00000636714.1:c.1202A>G	ENSP00000490946.1:p.Glu401Gly
ENST00000637666.2:c.1191+525A>G	ENSP00000489696.2:n.1191+525A>G
ENST00000637669.1:c.1202A>G	ENSP00000489728.1:p.Glu401Gly
ENST00000639722.1:c.*898A>G	ENSP00000492828.1:n.*898A>G
ENST00000674592.1:n.2716A>G
ENST00000675622.1:n.4269A>G
ENST00000679609.1:c.*812A>G	ENSP00000506592.1:n.*812A>G
ENST00000679656.1:n.1887A>G
ENST00000679723.1:c.1157A>G	ENSP00000505155.1:p.Glu386Gly
ENST00000679845.1:n.1510A>G
ENST00000679904.1:n.1598A>G
ENST00000680378.1:c.1289A>G	ENSP00000505556.1:p.Glu430Gly
ENST00000680444.1:c.*565A>G	ENSP00000505298.1:n.*565A>G
ENST00000680978.1:c.1202A>G	ENSP00000505244.1:p.Glu401Gly
ENST00000681003.1:n.665A>G
ENST00000681159.1:n.2606A>G
ENST00000216194.11:c.1244A>G	ENSP00000216194.8:p.Glu415Gly
ENST00000342312.9:c.1191+525A>G	ENSP00000341429.6:n.1191+525A>G
ENST00000623063.3:c.1202A>G MANE Select	ENSP00000485525.1:p.Glu401Gly
ENST00000623387.1:n.333A>G
ENST00000625194.3:c.831A>G
NM_000026.2:c.1202A>G	NP_000017.1:p.Glu401Gly
NM_001123378.1:c.1191+525A>G	NP_001116850.1:n.1191+525A>G
XM_011529976.1:c.1202A>G	XP_011528278.1:p.Glu401Gly
XM_011529977.1:c.1202A>G	XP_011528279.1:p.Glu401Gly
XM_011529978.1:c.1191+525A>G	XP_011528280.1:n.1191+525A>G
XM_011529979.1:c.1202A>G	XP_011528281.1:p.Glu401Gly
XM_011529980.1:c.1191+525A>G	XP_011528282.1:n.1191+525A>G
XM_011529981.1:c.737A>G	XP_011528283.1:p.Glu246Gly
XM_011529982.1:c.371A>G	XP_011528284.1:p.Glu124Gly
XR_937824.1:n.1292A>G
XR_937825.1:n.1281+525A>G
NM_000026.3:c.1202A>G	NP_000017.1:p.Glu401Gly
NM_001123378.2:c.1191+525A>G	NP_001116850.1:n.1191+525A>G
NM_001317923.1:c.1010A>G	NP_001304852.1:p.Glu337Gly
NM_001363840.1:c.1202A>G	NP_001350769.1:p.Glu401Gly
NR_134256.1:n.1292A>G
XM_011529977.3:c.1202A>G	XP_011528279.1:p.Glu401Gly
XM_011529980.3:c.1191+525A>G	XP_011528282.1:n.1191+525A>G
XM_017028636.1:c.1157A>G	XP_016884125.1:p.Glu386Gly
XM_017028637.1:c.1157A>G	XP_016884126.1:p.Glu386Gly
XM_017028638.1:c.737A>G	XP_016884127.1:p.Glu246Gly
XM_017028639.2:c.737A>G	XP_016884128.1:p.Glu246Gly
XM_017028640.1:c.371A>G	XP_016884129.1:p.Glu124Gly
XM_024452166.1:c.1146+525A>G	XP_024307934.1:n.1146+525A>G
XR_001755176.2:n.1444A>G
XR_002958670.1:n.1229A>G
XR_937825.3:n.1279+525A>G
NM_000026.4:c.1202A>G MANE Select	NP_000017.1:p.Glu401Gly
NM_001363840.2:c.1202A>G	NP_001350769.1:p.Glu401Gly
NM_001123378.3:c.1191+525A>G	NP_001116850.1:n.1191+525A>G
NM_001317923.2:c.1010A>G	NP_001304852.1:p.Glu337Gly
NM_001363840.3:c.1202A>G	NP_001350769.1:p.Glu401Gly
NR_134256.2:n.1292A>G