Canonical Allele Identifier: CA1047352084

Gene: ABHD5

Linked Data

• dbSNP Id: rs2084826457
• gnomAD v3: 3-43720802-G-T
• gnomAD v4: 3-43720802-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43720802G>T , CM000665.2:g.43720802G>T	GRCh38
NC_000003.11:g.43762294G>T , CM000665.1:g.43762294G>T	GRCh37
NC_000003.10:g.43737298G>T	NCBI36
NG_007090.3:g.34920G>T
NG_007090.5:g.34933G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454293.2:c.*29+2241G>T	ENSP00000412014.2:n.*29+2241G>T
ENST00000463153.2:c.306+2241G>T
ENST00000643477.1:c.*2781G>T	ENSP00000496220.1:n.*2781G>T
ENST00000644371.2:c.*2270G>T MANE Select	ENSP00000495778.1:n.*2270G>T
ENST00000649763.1:c.*29+2241G>T	ENSP00000497701.1:n.*29+2241G>T
ENST00000463153.1:n.309+2241G>T
NM_016006.4:c.*2270G>T	NP_057090.2:n.*2270G>T
XM_011533779.1:c.*2270G>T	XP_011532081.1:n.*2270G>T
XM_011533780.1:c.*2296G>T	XP_011532082.1:n.*2296G>T
XR_940447.1:n.3265G>T
NM_001355186.1:c.*29+2241G>T	NP_001342115.1:n.*29+2241G>T
NM_001365649.1:c.*2270G>T	NP_001352578.1:n.*2270G>T
NM_001365650.1:c.*2296G>T	NP_001352579.1:n.*2296G>T
NM_016006.5:c.*2270G>T	NP_057090.2:n.*2270G>T
NR_158560.1:n.3331G>T
NM_001355186.2:c.*29+2241G>T	NP_001342115.1:n.*29+2241G>T
NM_016006.6:c.*2270G>T MANE Select	NP_057090.2:n.*2270G>T