Canonical Allele Identifier: CA2341481

Gene: ABHD5

Linked Data

• dbSNP Id: rs753292128
• ExAC: 3:43759229 A / C
• gnomAD v2: 3-43759229-A-C
• gnomAD v4: 3-43717737-A-C
• MyVariant Identifiers: chr3:g.43759229A>C (hg19) ; chr3:g.43717737A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717737A>C , CM000665.2:g.43717737A>C	GRCh38
NC_000003.11:g.43759229A>C , CM000665.1:g.43759229A>C	GRCh37
NC_000003.10:g.43734233A>C	NCBI36
NG_007090.3:g.31855A>C
NG_007090.5:g.31868A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.268-29A>C
ENST00000454293.2:c.717A>C	ENSP00000412014.2:p.Arg239=
ENST00000458276.7:c.774-706A>C	ENSP00000390849.3:n.774-706A>C
ENST00000463153.2:c.67A>C
ENST00000642351.1:c.717A>C	ENSP00000494478.1:p.Arg239=
ENST00000643140.1:c.*202A>C	ENSP00000495588.1:n.*202A>C
ENST00000643477.1:c.*301A>C	ENSP00000496220.1:n.*301A>C
ENST00000643500.1:c.*41A>C	ENSP00000494735.1:n.*41A>C
ENST00000643520.1:n.1006A>C
ENST00000644371.2:c.840A>C MANE Select	ENSP00000495778.1:p.Arg280=
ENST00000646378.1:c.*890A>C	ENSP00000495826.1:n.*890A>C
ENST00000646799.1:c.*248-706A>C	ENSP00000494829.1:n.*248-706A>C
ENST00000649763.1:c.840A>C	ENSP00000497701.1:p.Arg280=
ENST00000413300.1:c.270-29A>C	ENSP00000392159.1:n.270-29A>C
ENST00000458276.6:c.840A>C	ENSP00000390849.2:p.Arg280=
ENST00000463153.1:n.70A>C
NM_016006.4:c.840A>C	NP_057090.2:p.Arg280=
XM_011533779.1:c.717A>C	XP_011532081.1:p.Arg239=
XM_011533780.1:c.774-706A>C	XP_011532082.1:n.774-706A>C
XR_940447.1:n.785A>C
NM_001355186.1:c.840A>C	NP_001342115.1:p.Arg280=
NM_001365649.1:c.717A>C	NP_001352578.1:p.Arg239=
NM_001365650.1:c.774-706A>C	NP_001352579.1:n.774-706A>C
NM_016006.5:c.840A>C	NP_057090.2:p.Arg280=
NR_158560.1:n.851A>C
NM_001355186.2:c.840A>C	NP_001342115.1:p.Arg280=
NM_016006.6:c.840A>C MANE Select	NP_057090.2:p.Arg280=