Canonical Allele Identifier: CA74393458

Gene: ABHD5

Linked Data

• dbSNP Id: rs910686387
• gnomAD v2: 3-43762193-A-G
• gnomAD v3: 3-43720701-A-G
• gnomAD v4: 3-43720701-A-G
• MyVariant Identifiers: chr3:g.43762193A>G (hg19) ; chr3:g.43720701A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43720701A>G , CM000665.2:g.43720701A>G	GRCh38
NC_000003.11:g.43762193A>G , CM000665.1:g.43762193A>G	GRCh37
NC_000003.10:g.43737197A>G	NCBI36
NG_007090.3:g.34819A>G
NG_007090.5:g.34832A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454293.2:c.*29+2140A>G	ENSP00000412014.2:n.*29+2140A>G
ENST00000463153.2:c.306+2140A>G
ENST00000643477.1:c.*2680A>G	ENSP00000496220.1:n.*2680A>G
ENST00000644371.2:c.*2169A>G MANE Select	ENSP00000495778.1:n.*2169A>G
ENST00000649763.1:c.*29+2140A>G	ENSP00000497701.1:n.*29+2140A>G
ENST00000463153.1:n.309+2140A>G
NM_016006.4:c.*2169A>G	NP_057090.2:n.*2169A>G
XM_011533779.1:c.*2169A>G	XP_011532081.1:n.*2169A>G
XM_011533780.1:c.*2195A>G	XP_011532082.1:n.*2195A>G
XR_940447.1:n.3164A>G
NM_001355186.1:c.*29+2140A>G	NP_001342115.1:n.*29+2140A>G
NM_001365649.1:c.*2169A>G	NP_001352578.1:n.*2169A>G
NM_001365650.1:c.*2195A>G	NP_001352579.1:n.*2195A>G
NM_016006.5:c.*2169A>G	NP_057090.2:n.*2169A>G
NR_158560.1:n.3230A>G
NM_001355186.2:c.*29+2140A>G	NP_001342115.1:n.*29+2140A>G
NM_016006.6:c.*2169A>G MANE Select	NP_057090.2:n.*2169A>G