Canonical Allele Identifier: CA74393468

Gene: ABHD5

Linked Data

• dbSNP Id: rs186484499
• gnomAD v3: 3-43720771-A-G
• gnomAD v4: 3-43720771-A-G
• MyVariant Identifiers: chr3:g.43762263A>G (hg19) ; chr3:g.43720771A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43720771A>G , CM000665.2:g.43720771A>G	GRCh38
NC_000003.11:g.43762263A>G , CM000665.1:g.43762263A>G	GRCh37
NC_000003.10:g.43737267A>G	NCBI36
NG_007090.3:g.34889A>G
NG_007090.5:g.34902A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454293.2:c.*29+2210A>G	ENSP00000412014.2:n.*29+2210A>G
ENST00000463153.2:c.306+2210A>G
ENST00000643477.1:c.*2750A>G	ENSP00000496220.1:n.*2750A>G
ENST00000644371.2:c.*2239A>G MANE Select	ENSP00000495778.1:n.*2239A>G
ENST00000649763.1:c.*29+2210A>G	ENSP00000497701.1:n.*29+2210A>G
ENST00000463153.1:n.309+2210A>G
NM_016006.4:c.*2239A>G	NP_057090.2:n.*2239A>G
XM_011533779.1:c.*2239A>G	XP_011532081.1:n.*2239A>G
XM_011533780.1:c.*2265A>G	XP_011532082.1:n.*2265A>G
XR_940447.1:n.3234A>G
NM_001355186.1:c.*29+2210A>G	NP_001342115.1:n.*29+2210A>G
NM_001365649.1:c.*2239A>G	NP_001352578.1:n.*2239A>G
NM_001365650.1:c.*2265A>G	NP_001352579.1:n.*2265A>G
NM_016006.5:c.*2239A>G	NP_057090.2:n.*2239A>G
NR_158560.1:n.3300A>G
NM_001355186.2:c.*29+2210A>G	NP_001342115.1:n.*29+2210A>G
NM_016006.6:c.*2239A>G MANE Select	NP_057090.2:n.*2239A>G