Canonical Allele Identifier: CA1047352015

Gene: ABHD5

Linked Data

• dbSNP Id: rs2084824423
• gnomAD v3: 3-43720644-T-C
• gnomAD v4: 3-43720644-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43720644T>C , CM000665.2:g.43720644T>C	GRCh38
NC_000003.11:g.43762136T>C , CM000665.1:g.43762136T>C	GRCh37
NC_000003.10:g.43737140T>C	NCBI36
NG_007090.3:g.34762T>C
NG_007090.5:g.34775T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454293.2:c.*29+2083T>C	ENSP00000412014.2:n.*29+2083T>C
ENST00000463153.2:c.306+2083T>C
ENST00000643477.1:c.*2623T>C	ENSP00000496220.1:n.*2623T>C
ENST00000644371.2:c.*2112T>C MANE Select	ENSP00000495778.1:n.*2112T>C
ENST00000649763.1:c.*29+2083T>C	ENSP00000497701.1:n.*29+2083T>C
ENST00000463153.1:n.309+2083T>C
NM_016006.4:c.*2112T>C	NP_057090.2:n.*2112T>C
XM_011533779.1:c.*2112T>C	XP_011532081.1:n.*2112T>C
XM_011533780.1:c.*2138T>C	XP_011532082.1:n.*2138T>C
XR_940447.1:n.3107T>C
NM_001355186.1:c.*29+2083T>C	NP_001342115.1:n.*29+2083T>C
NM_001365649.1:c.*2112T>C	NP_001352578.1:n.*2112T>C
NM_001365650.1:c.*2138T>C	NP_001352579.1:n.*2138T>C
NM_016006.5:c.*2112T>C	NP_057090.2:n.*2112T>C
NR_158560.1:n.3173T>C
NM_001355186.2:c.*29+2083T>C	NP_001342115.1:n.*29+2083T>C
NM_016006.6:c.*2112T>C MANE Select	NP_057090.2:n.*2112T>C