Canonical Allele Identifier: CA352347470

Gene: ABHD5

Linked Data

• MyVariant Identifiers: chr3:g.43759197T>A (hg19) ; chr3:g.43717705T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717705T>A , CM000665.2:g.43717705T>A	GRCh38
NC_000003.11:g.43759197T>A , CM000665.1:g.43759197T>A	GRCh37
NC_000003.10:g.43734201T>A	NCBI36
NG_007090.3:g.31823T>A
NG_007090.5:g.31836T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.268-61T>A
ENST00000454293.2:c.685T>A	ENSP00000412014.2:p.Tyr229Asn
ENST00000458276.7:c.774-738T>A	ENSP00000390849.3:n.774-738T>A
ENST00000463153.2:c.35T>A
ENST00000642351.1:c.685T>A	ENSP00000494478.1:p.Tyr229Asn
ENST00000643140.1:c.*170T>A	ENSP00000495588.1:n.*170T>A
ENST00000643477.1:c.*269T>A	ENSP00000496220.1:n.*269T>A
ENST00000643500.1:c.*9T>A	ENSP00000494735.1:n.*9T>A
ENST00000643520.1:n.974T>A
ENST00000644371.2:c.808T>A MANE Select	ENSP00000495778.1:p.Tyr270Asn
ENST00000646378.1:c.*858T>A	ENSP00000495826.1:n.*858T>A
ENST00000646799.1:c.*248-738T>A	ENSP00000494829.1:n.*248-738T>A
ENST00000649763.1:c.808T>A	ENSP00000497701.1:p.Tyr270Asn
ENST00000413300.1:c.270-61T>A	ENSP00000392159.1:n.270-61T>A
ENST00000458276.6:c.808T>A	ENSP00000390849.2:p.Tyr270Asn
ENST00000463153.1:n.38T>A
NM_016006.4:c.808T>A	NP_057090.2:p.Tyr270Asn
XM_011533779.1:c.685T>A	XP_011532081.1:p.Tyr229Asn
XM_011533780.1:c.774-738T>A	XP_011532082.1:n.774-738T>A
XR_940447.1:n.753T>A
NM_001355186.1:c.808T>A	NP_001342115.1:p.Tyr270Asn
NM_001365649.1:c.685T>A	NP_001352578.1:p.Tyr229Asn
NM_001365650.1:c.774-738T>A	NP_001352579.1:n.774-738T>A
NM_016006.5:c.808T>A	NP_057090.2:p.Tyr270Asn
NR_158560.1:n.819T>A
NM_001355186.2:c.808T>A	NP_001342115.1:p.Tyr270Asn
NM_016006.6:c.808T>A MANE Select	NP_057090.2:p.Tyr270Asn