Canonical Allele Identifier: CA256106

Gene: FAH

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80173143A>G , CM000677.2:g.80173143A>G	GRCh38
NC_000015.9:g.80465485A>G , CM000677.1:g.80465485A>G	GRCh37
NC_000015.8:g.78252540A>G	NCBI36
NG_012833.1:g.25145A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.925A>G
ENST00000561421.6:c.836A>G MANE Select	ENSP00000453347.2:p.Gln279Arg
ENST00000646551.1:n.2450A>G
ENST00000261755.9:c.836A>G	ENSP00000261755.5:p.Gln279Arg
ENST00000407106.5:c.836A>G	ENSP00000385080.1:p.Gln279Arg
ENST00000539156.5:c.626A>G	ENSP00000454271.1:p.Gln209Arg
ENST00000558627.1:n.764A>G
ENST00000559542.1:n.172A>G
ENST00000561421.5:c.836A>G	ENSP00000453347.1:p.Gln279Arg
NM_000137.2:c.836A>G	NP_000128.1:p.Gln279Arg
XM_024449872.1:c.836A>G	XP_024305640.1:p.Gln279Arg
NM_000137.4:c.836A>G MANE Select	NP_000128.1:p.Gln279Arg
NM_001374377.1:c.836A>G	NP_001361306.1:p.Gln279Arg
NM_001374380.1:c.836A>G	NP_001361309.1:p.Gln279Arg