Canonical Allele Identifier: CA514615617

Gene: ADSL

Linked Data

• ClinVar Variation Id: 1663202
• ClinVar RCV Id: RCV002188373
• dbSNP Id: rs2146673771
• MyVariant Identifiers: chr22:g.40760961C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40364957C>A , CM000684.2:g.40364957C>A	GRCh38
NC_000022.10:g.40760961C>A , CM000684.1:g.40760961C>A	GRCh37
NC_000022.9:g.39090907C>A	NCBI36
NG_007993.1:g.23458C>A
NG_007993.2:g.23458C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*663C>A	ENSP00000485462.2:n.*663C>A
ENST00000623287.4:c.*694C>A	ENSP00000485437.1:n.*694C>A
ENST00000623632.4:c.960C>A	ENSP00000485288.2:p.Leu320=
ENST00000625194.4:c.1311C>A	ENSP00000485289.2:p.Leu437=
ENST00000636433.1:n.1291C>A
ENST00000636714.1:c.1269C>A	ENSP00000490946.1:p.Leu423=
ENST00000637666.2:c.1191+592C>A	ENSP00000489696.2:n.1191+592C>A
ENST00000637669.1:c.1269C>A	ENSP00000489728.1:p.Leu423=
ENST00000639722.1:c.*965C>A	ENSP00000492828.1:n.*965C>A
ENST00000674592.1:n.2783C>A
ENST00000675622.1:n.4336C>A
ENST00000679609.1:c.*879C>A	ENSP00000506592.1:n.*879C>A
ENST00000679656.1:n.1954C>A
ENST00000679723.1:c.1224C>A	ENSP00000505155.1:p.Leu408=
ENST00000679845.1:n.1577C>A
ENST00000679904.1:n.1665C>A
ENST00000680378.1:c.1356C>A	ENSP00000505556.1:p.Leu452=
ENST00000680444.1:c.*632C>A	ENSP00000505298.1:n.*632C>A
ENST00000680978.1:c.1269C>A	ENSP00000505244.1:p.Leu423=
ENST00000681003.1:n.732C>A
ENST00000681159.1:n.2673C>A
ENST00000216194.11:c.1311C>A	ENSP00000216194.8:p.Leu437=
ENST00000342312.9:c.1191+592C>A	ENSP00000341429.6:n.1191+592C>A
ENST00000623063.3:c.1269C>A MANE Select	ENSP00000485525.1:p.Leu423=
ENST00000623387.1:n.400C>A
ENST00000625194.3:c.898C>A
NM_000026.2:c.1269C>A	NP_000017.1:p.Leu423=
NM_001123378.1:c.1191+592C>A	NP_001116850.1:n.1191+592C>A
XM_011529976.1:c.1269C>A	XP_011528278.1:p.Leu423=
XM_011529977.1:c.1269C>A	XP_011528279.1:p.Leu423=
XM_011529978.1:c.1191+592C>A	XP_011528280.1:n.1191+592C>A
XM_011529979.1:c.1269C>A	XP_011528281.1:p.Leu423=
XM_011529980.1:c.1191+592C>A	XP_011528282.1:n.1191+592C>A
XM_011529981.1:c.804C>A	XP_011528283.1:p.Leu268=
XM_011529982.1:c.438C>A	XP_011528284.1:p.Leu146=
XR_937824.1:n.1359C>A
XR_937825.1:n.1281+592C>A
NM_000026.3:c.1269C>A	NP_000017.1:p.Leu423=
NM_001123378.2:c.1191+592C>A	NP_001116850.1:n.1191+592C>A
NM_001317923.1:c.1077C>A	NP_001304852.1:p.Leu359=
NM_001363840.1:c.1269C>A	NP_001350769.1:p.Leu423=
NR_134256.1:n.1359C>A
XM_011529977.3:c.1269C>A	XP_011528279.1:p.Leu423=
XM_011529980.3:c.1191+592C>A	XP_011528282.1:n.1191+592C>A
XM_017028636.1:c.1224C>A	XP_016884125.1:p.Leu408=
XM_017028637.1:c.1224C>A	XP_016884126.1:p.Leu408=
XM_017028638.1:c.804C>A	XP_016884127.1:p.Leu268=
XM_017028639.2:c.804C>A	XP_016884128.1:p.Leu268=
XM_017028640.1:c.438C>A	XP_016884129.1:p.Leu146=
XM_024452166.1:c.1146+592C>A	XP_024307934.1:n.1146+592C>A
XR_001755176.2:n.1511C>A
XR_002958670.1:n.1296C>A
XR_937825.3:n.1279+592C>A
NM_000026.4:c.1269C>A MANE Select	NP_000017.1:p.Leu423=
NM_001363840.2:c.1269C>A	NP_001350769.1:p.Leu423=
NM_001123378.3:c.1191+592C>A	NP_001116850.1:n.1191+592C>A
NM_001317923.2:c.1077C>A	NP_001304852.1:p.Leu359=
NM_001363840.3:c.1269C>A	NP_001350769.1:p.Leu423=
NR_134256.2:n.1359C>A