Canonical Allele Identifier: CA907313869

Gene: ABHD5

Linked Data

• dbSNP Id: rs1337624803
• gnomAD v3: 3-43720807-T-C
• gnomAD v4: 3-43720807-T-C
• MyVariant Identifiers: chr3:g.43762299T>C (hg19) ; chr3:g.43720807T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43720807T>C , CM000665.2:g.43720807T>C	GRCh38
NC_000003.11:g.43762299T>C , CM000665.1:g.43762299T>C	GRCh37
NC_000003.10:g.43737303T>C	NCBI36
NG_007090.3:g.34925T>C
NG_007090.5:g.34938T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454293.2:c.*29+2246T>C	ENSP00000412014.2:n.*29+2246T>C
ENST00000463153.2:c.306+2246T>C
ENST00000643477.1:c.*2786T>C	ENSP00000496220.1:n.*2786T>C
ENST00000644371.2:c.*2275T>C MANE Select	ENSP00000495778.1:n.*2275T>C
ENST00000649763.1:c.*29+2246T>C	ENSP00000497701.1:n.*29+2246T>C
ENST00000463153.1:n.309+2246T>C
NM_016006.4:c.*2275T>C	NP_057090.2:n.*2275T>C
XM_011533779.1:c.*2275T>C	XP_011532081.1:n.*2275T>C
XM_011533780.1:c.*2301T>C	XP_011532082.1:n.*2301T>C
XR_940447.1:n.3270T>C
NM_001355186.1:c.*29+2246T>C	NP_001342115.1:n.*29+2246T>C
NM_001365649.1:c.*2275T>C	NP_001352578.1:n.*2275T>C
NM_001365650.1:c.*2301T>C	NP_001352579.1:n.*2301T>C
NM_016006.5:c.*2275T>C	NP_057090.2:n.*2275T>C
NR_158560.1:n.3336T>C
NM_001355186.2:c.*29+2246T>C	NP_001342115.1:n.*29+2246T>C
NM_016006.6:c.*2275T>C MANE Select	NP_057090.2:n.*2275T>C