Canonical Allele Identifier: CA352347417

Gene: ABHD5

Linked Data

• MyVariant Identifiers: chr3:g.43759173G>T (hg19) ; chr3:g.43717681G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717681G>T , CM000665.2:g.43717681G>T	GRCh38
NC_000003.11:g.43759173G>T , CM000665.1:g.43759173G>T	GRCh37
NC_000003.10:g.43734177G>T	NCBI36
NG_007090.3:g.31799G>T
NG_007090.5:g.31812G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.268-85G>T
ENST00000454293.2:c.661G>T	ENSP00000412014.2:p.Ala221Ser
ENST00000458276.7:c.774-762G>T	ENSP00000390849.3:n.774-762G>T
ENST00000463153.2:c.11G>T
ENST00000642351.1:c.661G>T	ENSP00000494478.1:p.Ala221Ser
ENST00000643140.1:c.*146G>T	ENSP00000495588.1:n.*146G>T
ENST00000643477.1:c.*245G>T	ENSP00000496220.1:n.*245G>T
ENST00000643500.1:c.672G>T	ENSP00000494735.1:p.Gln224His
ENST00000643520.1:n.950G>T
ENST00000644371.2:c.784G>T MANE Select	ENSP00000495778.1:p.Ala262Ser
ENST00000646378.1:c.*834G>T	ENSP00000495826.1:n.*834G>T
ENST00000646799.1:c.*248-762G>T	ENSP00000494829.1:n.*248-762G>T
ENST00000649763.1:c.784G>T	ENSP00000497701.1:p.Ala262Ser
ENST00000413300.1:c.270-85G>T	ENSP00000392159.1:n.270-85G>T
ENST00000458276.6:c.784G>T	ENSP00000390849.2:p.Ala262Ser
ENST00000463153.1:n.14G>T
NM_016006.4:c.784G>T	NP_057090.2:p.Ala262Ser
XM_011533779.1:c.661G>T	XP_011532081.1:p.Ala221Ser
XM_011533780.1:c.774-762G>T	XP_011532082.1:n.774-762G>T
XR_940447.1:n.729G>T
NM_001355186.1:c.784G>T	NP_001342115.1:p.Ala262Ser
NM_001365649.1:c.661G>T	NP_001352578.1:p.Ala221Ser
NM_001365650.1:c.774-762G>T	NP_001352579.1:n.774-762G>T
NM_016006.5:c.784G>T	NP_057090.2:p.Ala262Ser
NR_158560.1:n.795G>T
NM_001355186.2:c.784G>T	NP_001342115.1:p.Ala262Ser
NM_016006.6:c.784G>T MANE Select	NP_057090.2:p.Ala262Ser