Canonical Allele Identifier: CA74393461

Gene: ABHD5

Linked Data

• dbSNP Id: rs183518530
• gnomAD v2: 3-43762208-C-A
• gnomAD v3: 3-43720716-C-A
• gnomAD v4: 3-43720716-C-A
• MyVariant Identifiers: chr3:g.43762208C>A (hg19) ; chr3:g.43720716C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43720716C>A , CM000665.2:g.43720716C>A	GRCh38
NC_000003.11:g.43762208C>A , CM000665.1:g.43762208C>A	GRCh37
NC_000003.10:g.43737212C>A	NCBI36
NG_007090.3:g.34834C>A
NG_007090.5:g.34847C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454293.2:c.*29+2155C>A	ENSP00000412014.2:n.*29+2155C>A
ENST00000463153.2:c.306+2155C>A
ENST00000643477.1:c.*2695C>A	ENSP00000496220.1:n.*2695C>A
ENST00000644371.2:c.*2184C>A MANE Select	ENSP00000495778.1:n.*2184C>A
ENST00000649763.1:c.*29+2155C>A	ENSP00000497701.1:n.*29+2155C>A
ENST00000463153.1:n.309+2155C>A
NM_016006.4:c.*2184C>A	NP_057090.2:n.*2184C>A
XM_011533779.1:c.*2184C>A	XP_011532081.1:n.*2184C>A
XM_011533780.1:c.*2210C>A	XP_011532082.1:n.*2210C>A
XR_940447.1:n.3179C>A
NM_001355186.1:c.*29+2155C>A	NP_001342115.1:n.*29+2155C>A
NM_001365649.1:c.*2184C>A	NP_001352578.1:n.*2184C>A
NM_001365650.1:c.*2210C>A	NP_001352579.1:n.*2210C>A
NM_016006.5:c.*2184C>A	NP_057090.2:n.*2184C>A
NR_158560.1:n.3245C>A
NM_001355186.2:c.*29+2155C>A	NP_001342115.1:n.*29+2155C>A
NM_016006.6:c.*2184C>A MANE Select	NP_057090.2:n.*2184C>A