Canonical Allele Identifier: CA352347640

Gene: ABHD5

Linked Data

• MyVariant Identifiers: chr3:g.43759269T>C (hg19) ; chr3:g.43717777T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717777T>C , CM000665.2:g.43717777T>C	GRCh38
NC_000003.11:g.43759269T>C , CM000665.1:g.43759269T>C	GRCh37
NC_000003.10:g.43734273T>C	NCBI36
NG_007090.3:g.31895T>C
NG_007090.5:g.31908T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.279T>C
ENST00000454293.2:c.757T>C	ENSP00000412014.2:p.Phe253Leu
ENST00000458276.7:c.774-666T>C	ENSP00000390849.3:n.774-666T>C
ENST00000463153.2:c.107T>C
ENST00000642351.1:c.757T>C	ENSP00000494478.1:p.Phe253Leu
ENST00000643140.1:c.*242T>C	ENSP00000495588.1:n.*242T>C
ENST00000643477.1:c.*341T>C	ENSP00000496220.1:n.*341T>C
ENST00000643500.1:c.*81T>C	ENSP00000494735.1:n.*81T>C
ENST00000643520.1:n.1046T>C
ENST00000644371.2:c.880T>C MANE Select	ENSP00000495778.1:p.Phe294Leu
ENST00000646378.1:c.*930T>C	ENSP00000495826.1:n.*930T>C
ENST00000646799.1:c.*248-666T>C	ENSP00000494829.1:n.*248-666T>C
ENST00000649763.1:c.880T>C	ENSP00000497701.1:p.Phe294Leu
ENST00000413300.1:c.281T>C	ENSP00000392159.1:p.Leu94Pro
ENST00000458276.6:c.880T>C	ENSP00000390849.2:p.Phe294Leu
ENST00000463153.1:n.110T>C
NM_016006.4:c.880T>C	NP_057090.2:p.Phe294Leu
XM_011533779.1:c.757T>C	XP_011532081.1:p.Phe253Leu
XM_011533780.1:c.774-666T>C	XP_011532082.1:n.774-666T>C
XR_940447.1:n.825T>C
NM_001355186.1:c.880T>C	NP_001342115.1:p.Phe294Leu
NM_001365649.1:c.757T>C	NP_001352578.1:p.Phe253Leu
NM_001365650.1:c.774-666T>C	NP_001352579.1:n.774-666T>C
NM_016006.5:c.880T>C	NP_057090.2:p.Phe294Leu
NR_158560.1:n.891T>C
NM_001355186.2:c.880T>C	NP_001342115.1:p.Phe294Leu
NM_016006.6:c.880T>C MANE Select	NP_057090.2:p.Phe294Leu