Canonical Allele Identifier: CA352347494

Gene: ABHD5

Linked Data

• MyVariant Identifiers: chr3:g.43759206G>T (hg19) ; chr3:g.43717714G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717714G>T , CM000665.2:g.43717714G>T	GRCh38
NC_000003.11:g.43759206G>T , CM000665.1:g.43759206G>T	GRCh37
NC_000003.10:g.43734210G>T	NCBI36
NG_007090.3:g.31832G>T
NG_007090.5:g.31845G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000413300.2:c.268-52G>T
ENST00000454293.2:c.694G>T	ENSP00000412014.2:p.Ala232Ser
ENST00000458276.7:c.774-729G>T	ENSP00000390849.3:n.774-729G>T
ENST00000463153.2:c.44G>T
ENST00000642351.1:c.694G>T	ENSP00000494478.1:p.Ala232Ser
ENST00000643140.1:c.*179G>T	ENSP00000495588.1:n.*179G>T
ENST00000643477.1:c.*278G>T	ENSP00000496220.1:n.*278G>T
ENST00000643500.1:c.*18G>T	ENSP00000494735.1:n.*18G>T
ENST00000643520.1:n.983G>T
ENST00000644371.2:c.817G>T MANE Select	ENSP00000495778.1:p.Ala273Ser
ENST00000646378.1:c.*867G>T	ENSP00000495826.1:n.*867G>T
ENST00000646799.1:c.*248-729G>T	ENSP00000494829.1:n.*248-729G>T
ENST00000649763.1:c.817G>T	ENSP00000497701.1:p.Ala273Ser
ENST00000413300.1:c.270-52G>T	ENSP00000392159.1:n.270-52G>T
ENST00000458276.6:c.817G>T	ENSP00000390849.2:p.Ala273Ser
ENST00000463153.1:n.47G>T
NM_016006.4:c.817G>T	NP_057090.2:p.Ala273Ser
XM_011533779.1:c.694G>T	XP_011532081.1:p.Ala232Ser
XM_011533780.1:c.774-729G>T	XP_011532082.1:n.774-729G>T
XR_940447.1:n.762G>T
NM_001355186.1:c.817G>T	NP_001342115.1:p.Ala273Ser
NM_001365649.1:c.694G>T	NP_001352578.1:p.Ala232Ser
NM_001365650.1:c.774-729G>T	NP_001352579.1:n.774-729G>T
NM_016006.5:c.817G>T	NP_057090.2:p.Ala273Ser
NR_158560.1:n.828G>T
NM_001355186.2:c.817G>T	NP_001342115.1:p.Ala273Ser
NM_016006.6:c.817G>T MANE Select	NP_057090.2:p.Ala273Ser