Canonical Allele Identifier: CA352347623

Gene: ABHD5

Linked Data

• MyVariant Identifiers: chr3:g.43759263G>C (hg19) ; chr3:g.43717771G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717771G>C , CM000665.2:g.43717771G>C	GRCh38
NC_000003.11:g.43759263G>C , CM000665.1:g.43759263G>C	GRCh37
NC_000003.10:g.43734267G>C	NCBI36
NG_007090.3:g.31889G>C
NG_007090.5:g.31902G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.273G>C
ENST00000454293.2:c.751G>C	ENSP00000412014.2:p.Val251Leu
ENST00000458276.7:c.774-672G>C	ENSP00000390849.3:n.774-672G>C
ENST00000463153.2:c.101G>C
ENST00000642351.1:c.751G>C	ENSP00000494478.1:p.Val251Leu
ENST00000643140.1:c.*236G>C	ENSP00000495588.1:n.*236G>C
ENST00000643477.1:c.*335G>C	ENSP00000496220.1:n.*335G>C
ENST00000643500.1:c.*75G>C	ENSP00000494735.1:n.*75G>C
ENST00000643520.1:n.1040G>C
ENST00000644371.2:c.874G>C MANE Select	ENSP00000495778.1:p.Val292Leu
ENST00000646378.1:c.*924G>C	ENSP00000495826.1:n.*924G>C
ENST00000646799.1:c.*248-672G>C	ENSP00000494829.1:n.*248-672G>C
ENST00000649763.1:c.874G>C	ENSP00000497701.1:p.Val292Leu
ENST00000413300.1:c.275G>C	ENSP00000392159.1:p.Ser92Thr
ENST00000458276.6:c.874G>C	ENSP00000390849.2:p.Val292Leu
ENST00000463153.1:n.104G>C
NM_016006.4:c.874G>C	NP_057090.2:p.Val292Leu
XM_011533779.1:c.751G>C	XP_011532081.1:p.Val251Leu
XM_011533780.1:c.774-672G>C	XP_011532082.1:n.774-672G>C
XR_940447.1:n.819G>C
NM_001355186.1:c.874G>C	NP_001342115.1:p.Val292Leu
NM_001365649.1:c.751G>C	NP_001352578.1:p.Val251Leu
NM_001365650.1:c.774-672G>C	NP_001352579.1:n.774-672G>C
NM_016006.5:c.874G>C	NP_057090.2:p.Val292Leu
NR_158560.1:n.885G>C
NM_001355186.2:c.874G>C	NP_001342115.1:p.Val292Leu
NM_016006.6:c.874G>C MANE Select	NP_057090.2:p.Val292Leu