Canonical Allele Identifier: CA514615589

Gene: ADSL

Linked Data

• dbSNP Id: rs2044941072
• gnomAD v4: 22-40364912-G-A
• MyVariant Identifiers: chr22:g.40760916G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40364912G>A , CM000684.2:g.40364912G>A	GRCh38
NC_000022.10:g.40760916G>A , CM000684.1:g.40760916G>A	GRCh37
NC_000022.9:g.39090862G>A	NCBI36
NG_007993.1:g.23413G>A
NG_007993.2:g.23413G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*618G>A	ENSP00000485462.2:n.*618G>A
ENST00000623287.4:c.*649G>A	ENSP00000485437.1:n.*649G>A
ENST00000623632.4:c.915G>A	ENSP00000485288.2:p.Gln305=
ENST00000625194.4:c.1266G>A	ENSP00000485289.2:p.Gln422=
ENST00000636433.1:n.1246G>A
ENST00000636714.1:c.1224G>A	ENSP00000490946.1:p.Gln408=
ENST00000637666.2:c.1191+547G>A	ENSP00000489696.2:n.1191+547G>A
ENST00000637669.1:c.1224G>A	ENSP00000489728.1:p.Gln408=
ENST00000639722.1:c.*920G>A	ENSP00000492828.1:n.*920G>A
ENST00000674592.1:n.2738G>A
ENST00000675622.1:n.4291G>A
ENST00000679609.1:c.*834G>A	ENSP00000506592.1:n.*834G>A
ENST00000679656.1:n.1909G>A
ENST00000679723.1:c.1179G>A	ENSP00000505155.1:p.Gln393=
ENST00000679845.1:n.1532G>A
ENST00000679904.1:n.1620G>A
ENST00000680378.1:c.1311G>A	ENSP00000505556.1:p.Gln437=
ENST00000680444.1:c.*587G>A	ENSP00000505298.1:n.*587G>A
ENST00000680978.1:c.1224G>A	ENSP00000505244.1:p.Gln408=
ENST00000681003.1:n.687G>A
ENST00000681159.1:n.2628G>A
ENST00000216194.11:c.1266G>A	ENSP00000216194.8:p.Gln422=
ENST00000342312.9:c.1191+547G>A	ENSP00000341429.6:n.1191+547G>A
ENST00000623063.3:c.1224G>A MANE Select	ENSP00000485525.1:p.Gln408=
ENST00000623387.1:n.355G>A
ENST00000625194.3:c.853G>A
NM_000026.2:c.1224G>A	NP_000017.1:p.Gln408=
NM_001123378.1:c.1191+547G>A	NP_001116850.1:n.1191+547G>A
XM_011529976.1:c.1224G>A	XP_011528278.1:p.Gln408=
XM_011529977.1:c.1224G>A	XP_011528279.1:p.Gln408=
XM_011529978.1:c.1191+547G>A	XP_011528280.1:n.1191+547G>A
XM_011529979.1:c.1224G>A	XP_011528281.1:p.Gln408=
XM_011529980.1:c.1191+547G>A	XP_011528282.1:n.1191+547G>A
XM_011529981.1:c.759G>A	XP_011528283.1:p.Gln253=
XM_011529982.1:c.393G>A	XP_011528284.1:p.Gln131=
XR_937824.1:n.1314G>A
XR_937825.1:n.1281+547G>A
NM_000026.3:c.1224G>A	NP_000017.1:p.Gln408=
NM_001123378.2:c.1191+547G>A	NP_001116850.1:n.1191+547G>A
NM_001317923.1:c.1032G>A	NP_001304852.1:p.Gln344=
NM_001363840.1:c.1224G>A	NP_001350769.1:p.Gln408=
NR_134256.1:n.1314G>A
XM_011529977.3:c.1224G>A	XP_011528279.1:p.Gln408=
XM_011529980.3:c.1191+547G>A	XP_011528282.1:n.1191+547G>A
XM_017028636.1:c.1179G>A	XP_016884125.1:p.Gln393=
XM_017028637.1:c.1179G>A	XP_016884126.1:p.Gln393=
XM_017028638.1:c.759G>A	XP_016884127.1:p.Gln253=
XM_017028639.2:c.759G>A	XP_016884128.1:p.Gln253=
XM_017028640.1:c.393G>A	XP_016884129.1:p.Gln131=
XM_024452166.1:c.1146+547G>A	XP_024307934.1:n.1146+547G>A
XR_001755176.2:n.1466G>A
XR_002958670.1:n.1251G>A
XR_937825.3:n.1279+547G>A
NM_000026.4:c.1224G>A MANE Select	NP_000017.1:p.Gln408=
NM_001363840.2:c.1224G>A	NP_001350769.1:p.Gln408=
NM_001123378.3:c.1191+547G>A	NP_001116850.1:n.1191+547G>A
NM_001317923.2:c.1032G>A	NP_001304852.1:p.Gln344=
NM_001363840.3:c.1224G>A	NP_001350769.1:p.Gln408=
NR_134256.2:n.1314G>A