Canonical Allele Identifier: CA352347784

Gene: ABHD5

Linked Data

• gnomAD v4: 3-43717829-T-C
• MyVariant Identifiers: chr3:g.43759321T>C (hg19) ; chr3:g.43717829T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717829T>C , CM000665.2:g.43717829T>C	GRCh38
NC_000003.11:g.43759321T>C , CM000665.1:g.43759321T>C	GRCh37
NC_000003.10:g.43734325T>C	NCBI36
NG_007090.3:g.31947T>C
NG_007090.5:g.31960T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.331T>C
ENST00000454293.2:c.809T>C	ENSP00000412014.2:p.Leu270Ser
ENST00000458276.7:c.774-614T>C	ENSP00000390849.3:n.774-614T>C
ENST00000463153.2:c.159T>C
ENST00000642351.1:c.809T>C	ENSP00000494478.1:p.Leu270Ser
ENST00000643140.1:c.*294T>C	ENSP00000495588.1:n.*294T>C
ENST00000643477.1:c.*393T>C	ENSP00000496220.1:n.*393T>C
ENST00000643500.1:c.*133T>C	ENSP00000494735.1:n.*133T>C
ENST00000643520.1:n.1098T>C
ENST00000644371.2:c.932T>C MANE Select	ENSP00000495778.1:p.Leu311Ser
ENST00000646378.1:c.*982T>C	ENSP00000495826.1:n.*982T>C
ENST00000646799.1:c.*248-614T>C	ENSP00000494829.1:n.*248-614T>C
ENST00000649763.1:c.932T>C	ENSP00000497701.1:p.Leu311Ser
ENST00000413300.1:c.333T>C	ENSP00000392159.1:p.Leu111=
ENST00000458276.6:c.932T>C	ENSP00000390849.2:p.Leu311Ser
ENST00000463153.1:n.162T>C
NM_016006.4:c.932T>C	NP_057090.2:p.Leu311Ser
XM_011533779.1:c.809T>C	XP_011532081.1:p.Leu270Ser
XM_011533780.1:c.774-614T>C	XP_011532082.1:n.774-614T>C
XR_940447.1:n.877T>C
NM_001355186.1:c.932T>C	NP_001342115.1:p.Leu311Ser
NM_001365649.1:c.809T>C	NP_001352578.1:p.Leu270Ser
NM_001365650.1:c.774-614T>C	NP_001352579.1:n.774-614T>C
NM_016006.5:c.932T>C	NP_057090.2:p.Leu311Ser
NR_158560.1:n.943T>C
NM_001355186.2:c.932T>C	NP_001342115.1:p.Leu311Ser
NM_016006.6:c.932T>C MANE Select	NP_057090.2:p.Leu311Ser