Canonical Allele Identifier: CA74393467

Gene: ABHD5

Linked Data

• dbSNP Id: rs949639116
• gnomAD v2: 3-43762249-C-G
• gnomAD v3: 3-43720757-C-G
• gnomAD v4: 3-43720757-C-G
• MyVariant Identifiers: chr3:g.43762249C>G (hg19) ; chr3:g.43720757C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43720757C>G , CM000665.2:g.43720757C>G	GRCh38
NC_000003.11:g.43762249C>G , CM000665.1:g.43762249C>G	GRCh37
NC_000003.10:g.43737253C>G	NCBI36
NG_007090.3:g.34875C>G
NG_007090.5:g.34888C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454293.2:c.*29+2196C>G	ENSP00000412014.2:n.*29+2196C>G
ENST00000463153.2:c.306+2196C>G
ENST00000643477.1:c.*2736C>G	ENSP00000496220.1:n.*2736C>G
ENST00000644371.2:c.*2225C>G MANE Select	ENSP00000495778.1:n.*2225C>G
ENST00000649763.1:c.*29+2196C>G	ENSP00000497701.1:n.*29+2196C>G
ENST00000463153.1:n.309+2196C>G
NM_016006.4:c.*2225C>G	NP_057090.2:n.*2225C>G
XM_011533779.1:c.*2225C>G	XP_011532081.1:n.*2225C>G
XM_011533780.1:c.*2251C>G	XP_011532082.1:n.*2251C>G
XR_940447.1:n.3220C>G
NM_001355186.1:c.*29+2196C>G	NP_001342115.1:n.*29+2196C>G
NM_001365649.1:c.*2225C>G	NP_001352578.1:n.*2225C>G
NM_001365650.1:c.*2251C>G	NP_001352579.1:n.*2251C>G
NM_016006.5:c.*2225C>G	NP_057090.2:n.*2225C>G
NR_158560.1:n.3286C>G
NM_001355186.2:c.*29+2196C>G	NP_001342115.1:n.*29+2196C>G
NM_016006.6:c.*2225C>G MANE Select	NP_057090.2:n.*2225C>G