Canonical Allele Identifier: CA411641845

Gene: ADSL

Linked Data

• gnomAD v4: 22-40359281-G-A
• MyVariant Identifiers: chr22:g.40755285G>A (hg19) ; chr22:g.40359281G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40359281G>A , CM000684.2:g.40359281G>A	GRCh38
NC_000022.10:g.40755285G>A , CM000684.1:g.40755285G>A	GRCh37
NC_000022.9:g.39085231G>A	NCBI36
NG_007993.1:g.17782G>A
NG_007993.2:g.17782G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000480775.3:c.676G>A	ENSP00000485462.2:p.Val226Met
ENST00000623287.4:c.*101G>A	ENSP00000485437.1:n.*101G>A
ENST00000623632.4:c.676G>A	ENSP00000485288.2:p.Val226Met
ENST00000625194.4:c.676G>A	ENSP00000485289.2:p.Val226Met
ENST00000636265.1:c.676G>A	ENSP00000490909.1:p.Val226Met
ENST00000636433.1:n.698G>A
ENST00000636714.1:c.676G>A	ENSP00000490946.1:p.Val226Met
ENST00000637666.2:c.676G>A	ENSP00000489696.2:p.Val226Met
ENST00000637669.1:c.676G>A	ENSP00000489728.1:p.Val226Met
ENST00000639722.1:c.*372G>A	ENSP00000492828.1:n.*372G>A
ENST00000674592.1:n.700G>A
ENST00000675622.1:n.3743G>A
ENST00000679609.1:c.*101G>A	ENSP00000506592.1:n.*101G>A
ENST00000679656.1:n.581G>A
ENST00000679723.1:c.631G>A	ENSP00000505155.1:p.Val211Met
ENST00000679845.1:n.799G>A
ENST00000679904.1:n.887G>A
ENST00000680378.1:c.763G>A	ENSP00000505556.1:p.Val255Met
ENST00000680444.1:c.676G>A	ENSP00000505298.1:p.Val226Met
ENST00000680978.1:c.676G>A	ENSP00000505244.1:p.Val226Met
ENST00000681159.1:n.735G>A
ENST00000216194.11:c.718G>A	ENSP00000216194.8:p.Val240Met
ENST00000342312.9:c.676G>A	ENSP00000341429.6:p.Val226Met
ENST00000477111.2:n.805G>A
ENST00000480775.2:c.90G>A
ENST00000623063.3:c.676G>A MANE Select	ENSP00000485525.1:p.Val226Met
ENST00000623287.3:c.*101G>A	ENSP00000485437.1:n.*101G>A
ENST00000623632.3:c.631G>A	ENSP00000485288.1:p.Val211Met
ENST00000623978.3:c.136G>A	ENSP00000485477.1:p.Val46Met
ENST00000624474.1:c.*101G>A	ENSP00000485286.1:n.*101G>A
ENST00000625194.3:c.263G>A
NM_000026.2:c.676G>A	NP_000017.1:p.Val226Met
NM_001123378.1:c.676G>A	NP_001116850.1:p.Val226Met
XM_011529976.1:c.676G>A	XP_011528278.1:p.Val226Met
XM_011529977.1:c.676G>A	XP_011528279.1:p.Val226Met
XM_011529978.1:c.676G>A	XP_011528280.1:p.Val226Met
XM_011529979.1:c.676G>A	XP_011528281.1:p.Val226Met
XM_011529980.1:c.676G>A	XP_011528282.1:p.Val226Met
XM_011529981.1:c.211G>A	XP_011528283.1:p.Val71Met
XM_011529982.1:c.-341G>A	XP_011528284.1:n.-341G>A
XR_937824.1:n.735G>A
XR_937825.1:n.735G>A
XR_937826.1:n.735G>A
NM_000026.3:c.676G>A	NP_000017.1:p.Val226Met
NM_001123378.2:c.676G>A	NP_001116850.1:p.Val226Met
NM_001317923.1:c.484G>A	NP_001304852.1:p.Val162Met
NM_001363840.1:c.676G>A	NP_001350769.1:p.Val226Met
NR_134256.1:n.735G>A
XM_011529977.3:c.676G>A	XP_011528279.1:p.Val226Met
XM_011529980.3:c.676G>A	XP_011528282.1:p.Val226Met
XM_017028636.1:c.631G>A	XP_016884125.1:p.Val211Met
XM_017028637.1:c.631G>A	XP_016884126.1:p.Val211Met
XM_017028638.1:c.211G>A	XP_016884127.1:p.Val71Met
XM_017028639.2:c.211G>A	XP_016884128.1:p.Val71Met
XM_017028640.1:c.-341G>A	XP_016884129.1:n.-341G>A
XM_024452166.1:c.631G>A	XP_024307934.1:p.Val211Met
XR_001755176.2:n.733G>A
XR_002958670.1:n.672G>A
XR_002958671.1:n.733G>A
XR_937825.3:n.733G>A
NM_000026.4:c.676G>A MANE Select	NP_000017.1:p.Val226Met
NM_001363840.2:c.676G>A	NP_001350769.1:p.Val226Met
NM_001123378.3:c.676G>A	NP_001116850.1:p.Val226Met
NM_001317923.2:c.484G>A	NP_001304852.1:p.Val162Met
NM_001363840.3:c.676G>A	NP_001350769.1:p.Val226Met
NR_134256.2:n.735G>A