Canonical Allele Identifier: CA1047351985

Gene: ABHD5

Linked Data

• dbSNP Id: rs949663639
• gnomAD v3: 3-43720521-G-C
• gnomAD v4: 3-43720521-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43720521G>C , CM000665.2:g.43720521G>C	GRCh38
NC_000003.11:g.43762013G>C , CM000665.1:g.43762013G>C	GRCh37
NC_000003.10:g.43737017G>C	NCBI36
NG_007090.3:g.34639G>C
NG_007090.5:g.34652G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000454293.2:c.*29+1960G>C	ENSP00000412014.2:n.*29+1960G>C
ENST00000463153.2:c.306+1960G>C
ENST00000643477.1:c.*2500G>C	ENSP00000496220.1:n.*2500G>C
ENST00000644371.2:c.*1989G>C MANE Select	ENSP00000495778.1:n.*1989G>C
ENST00000649763.1:c.*29+1960G>C	ENSP00000497701.1:n.*29+1960G>C
ENST00000463153.1:n.309+1960G>C
NM_016006.4:c.*1989G>C	NP_057090.2:n.*1989G>C
XM_011533779.1:c.*1989G>C	XP_011532081.1:n.*1989G>C
XM_011533780.1:c.*2015G>C	XP_011532082.1:n.*2015G>C
XR_940447.1:n.2984G>C
NM_001355186.1:c.*29+1960G>C	NP_001342115.1:n.*29+1960G>C
NM_001365649.1:c.*1989G>C	NP_001352578.1:n.*1989G>C
NM_001365650.1:c.*2015G>C	NP_001352579.1:n.*2015G>C
NM_016006.5:c.*1989G>C	NP_057090.2:n.*1989G>C
NR_158560.1:n.3050G>C
NM_001355186.2:c.*29+1960G>C	NP_001342115.1:n.*29+1960G>C
NM_016006.6:c.*1989G>C MANE Select	NP_057090.2:n.*1989G>C