Canonical Allele Identifier: CA352347595

Gene: ABHD5

Linked Data

• MyVariant Identifiers: chr3:g.43759254C>A (hg19) ; chr3:g.43717762C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717762C>A , CM000665.2:g.43717762C>A	GRCh38
NC_000003.11:g.43759254C>A , CM000665.1:g.43759254C>A	GRCh37
NC_000003.10:g.43734258C>A	NCBI36
NG_007090.3:g.31880C>A
NG_007090.5:g.31893C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.268-4C>A
ENST00000454293.2:c.742C>A	ENSP00000412014.2:p.Pro248Thr
ENST00000458276.7:c.774-681C>A	ENSP00000390849.3:n.774-681C>A
ENST00000463153.2:c.92C>A
ENST00000642351.1:c.742C>A	ENSP00000494478.1:p.Pro248Thr
ENST00000643140.1:c.*227C>A	ENSP00000495588.1:n.*227C>A
ENST00000643477.1:c.*326C>A	ENSP00000496220.1:n.*326C>A
ENST00000643500.1:c.*66C>A	ENSP00000494735.1:n.*66C>A
ENST00000643520.1:n.1031C>A
ENST00000644371.2:c.865C>A MANE Select	ENSP00000495778.1:p.Pro289Thr
ENST00000646378.1:c.*915C>A	ENSP00000495826.1:n.*915C>A
ENST00000646799.1:c.*248-681C>A	ENSP00000494829.1:n.*248-681C>A
ENST00000649763.1:c.865C>A	ENSP00000497701.1:p.Pro289Thr
ENST00000413300.1:c.270-4C>A	ENSP00000392159.1:n.270-4C>A
ENST00000458276.6:c.865C>A	ENSP00000390849.2:p.Pro289Thr
ENST00000463153.1:n.95C>A
NM_016006.4:c.865C>A	NP_057090.2:p.Pro289Thr
XM_011533779.1:c.742C>A	XP_011532081.1:p.Pro248Thr
XM_011533780.1:c.774-681C>A	XP_011532082.1:n.774-681C>A
XR_940447.1:n.810C>A
NM_001355186.1:c.865C>A	NP_001342115.1:p.Pro289Thr
NM_001365649.1:c.742C>A	NP_001352578.1:p.Pro248Thr
NM_001365650.1:c.774-681C>A	NP_001352579.1:n.774-681C>A
NM_016006.5:c.865C>A	NP_057090.2:p.Pro289Thr
NR_158560.1:n.876C>A
NM_001355186.2:c.865C>A	NP_001342115.1:p.Pro289Thr
NM_016006.6:c.865C>A MANE Select	NP_057090.2:p.Pro289Thr