Canonical Allele Identifier: CA393620023

Gene: FAH

Linked Data

• MyVariant Identifiers: chr15:g.80460629T>G (hg19) ; chr15:g.80168287T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168287T>G , CM000677.2:g.80168287T>G	GRCh38
NC_000015.9:g.80460629T>G , CM000677.1:g.80460629T>G	GRCh37
NC_000015.8:g.78247684T>G	NCBI36
NG_012833.1:g.20289T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.766T>G
ENST00000684569.1:n.622T>G
ENST00000561421.6:c.577T>G MANE Select	ENSP00000453347.2:p.Cys193Gly
ENST00000646551.1:n.2204T>G
ENST00000261755.9:c.577T>G	ENSP00000261755.5:p.Cys193Gly
ENST00000407106.5:c.577T>G	ENSP00000385080.1:p.Cys193Gly
ENST00000539156.5:c.367T>G	ENSP00000454271.1:p.Cys123Gly
ENST00000558514.1:n.123T>G
ENST00000558627.1:n.505T>G
ENST00000561421.5:c.577T>G	ENSP00000453347.1:p.Cys193Gly
NM_000137.2:c.577T>G	NP_000128.1:p.Cys193Gly
XM_024449872.1:c.577T>G	XP_024305640.1:p.Cys193Gly
NM_000137.4:c.577T>G MANE Select	NP_000128.1:p.Cys193Gly
NM_001374377.1:c.577T>G	NP_001361306.1:p.Cys193Gly
NM_001374380.1:c.577T>G	NP_001361309.1:p.Cys193Gly