Canonical Allele Identifier: CA10247639

Gene: ADSL

Linked Data

• ClinVar Variation Id: 855926
• ClinVar RCV Id: RCV001061282 ; RCV002284461
• dbSNP Id: rs765813625
• ExAC: 22:40745843 G / A
• gnomAD v2: 22-40745843-G-A
• gnomAD v4: 22-40349839-G-A
• MyVariant Identifiers: chr22:g.40745843G>A (hg19) ; chr22:g.40349839G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40349839G>A , CM000684.2:g.40349839G>A	GRCh38
NC_000022.10:g.40745843G>A , CM000684.1:g.40745843G>A	GRCh37
NC_000022.9:g.39075789G>A	NCBI36
NG_007993.1:g.8340G>A
NG_007993.2:g.8340G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000480775.3:c.161G>A	ENSP00000485462.2:p.Gly54Asp
ENST00000623287.4:c.161G>A	ENSP00000485437.1:p.Gly54Asp
ENST00000623632.4:c.161G>A	ENSP00000485288.2:p.Gly54Asp
ENST00000625194.4:c.161G>A	ENSP00000485289.2:p.Gly54Asp
ENST00000636124.1:n.49+2487G>A
ENST00000636265.1:c.161G>A	ENSP00000490909.1:p.Gly54Asp
ENST00000636714.1:c.161G>A	ENSP00000490946.1:p.Gly54Asp
ENST00000637666.2:c.161G>A	ENSP00000489696.2:p.Gly54Asp
ENST00000637669.1:c.161G>A	ENSP00000489728.1:p.Gly54Asp
ENST00000638161.1:n.298G>A
ENST00000639722.1:c.411G>A	ENSP00000492828.1:p.Gly137=
ENST00000675622.1:n.191G>A
ENST00000679609.1:c.161G>A	ENSP00000506592.1:p.Gly54Asp
ENST00000679656.1:n.191G>A
ENST00000679723.1:c.161G>A	ENSP00000505155.1:p.Gly54Asp
ENST00000680378.1:c.161G>A	ENSP00000505556.1:p.Gly54Asp
ENST00000680444.1:c.161G>A	ENSP00000505298.1:p.Gly54Asp
ENST00000680978.1:c.161G>A	ENSP00000505244.1:p.Gly54Asp
ENST00000681159.1:n.220G>A
ENST00000216194.11:c.161G>A	ENSP00000216194.8:p.Gly54Asp
ENST00000342312.9:c.161G>A	ENSP00000341429.6:p.Gly54Asp
ENST00000466863.1:n.202G>A
ENST00000477111.2:n.191G>A
ENST00000623063.3:c.161G>A MANE Select	ENSP00000485525.1:p.Gly54Asp
ENST00000623287.3:c.161G>A	ENSP00000485437.1:p.Gly54Asp
ENST00000623632.3:c.161G>A	ENSP00000485288.1:p.Gly54Asp
ENST00000623978.3:c.-184+3183G>A	ENSP00000485477.1:n.-184+3183G>A
ENST00000624474.1:c.161G>A	ENSP00000485286.1:p.Gly54Asp
ENST00000624503.1:c.161G>A	ENSP00000485073.1:p.Gly54Asp
NM_000026.2:c.161G>A	NP_000017.1:p.Gly54Asp
NM_001123378.1:c.161G>A	NP_001116850.1:p.Gly54Asp
XM_011529976.1:c.161G>A	XP_011528278.1:p.Gly54Asp
XM_011529977.1:c.161G>A	XP_011528279.1:p.Gly54Asp
XM_011529978.1:c.161G>A	XP_011528280.1:p.Gly54Asp
XM_011529979.1:c.161G>A	XP_011528281.1:p.Gly54Asp
XM_011529980.1:c.161G>A	XP_011528282.1:p.Gly54Asp
XM_011529981.1:c.-180G>A	XP_011528283.1:n.-180G>A
XR_937824.1:n.220G>A
XR_937825.1:n.220G>A
XR_937826.1:n.220G>A
NM_000026.3:c.161G>A	NP_000017.1:p.Gly54Asp
NM_001123378.2:c.161G>A	NP_001116850.1:p.Gly54Asp
NM_001317923.1:c.-32G>A	NP_001304852.1:n.-32G>A
NM_001363840.1:c.161G>A	NP_001350769.1:p.Gly54Asp
NR_134256.1:n.220G>A
XM_011529977.3:c.161G>A	XP_011528279.1:p.Gly54Asp
XM_011529980.3:c.161G>A	XP_011528282.1:p.Gly54Asp
XM_017028636.1:c.161G>A	XP_016884125.1:p.Gly54Asp
XM_017028637.1:c.161G>A	XP_016884126.1:p.Gly54Asp
XM_017028638.1:c.-180G>A	XP_016884127.1:n.-180G>A
XM_017028639.2:c.-180G>A	XP_016884128.1:n.-180G>A
XM_024452166.1:c.161G>A	XP_024307934.1:p.Gly54Asp
XR_001755176.2:n.218G>A
XR_002958670.1:n.202G>A
XR_002958671.1:n.218G>A
XR_937825.3:n.218G>A
NM_000026.4:c.161G>A MANE Select	NP_000017.1:p.Gly54Asp
NM_001363840.2:c.161G>A	NP_001350769.1:p.Gly54Asp
NM_001123378.3:c.161G>A	NP_001116850.1:p.Gly54Asp
NM_001317923.2:c.-32G>A	NP_001304852.1:n.-32G>A
NM_001363840.3:c.161G>A	NP_001350769.1:p.Gly54Asp
NR_134256.2:n.220G>A