Canonical Allele Identifier: CA2190338862

Gene: FAH

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_000137.4:c.836A= MANE Select	NP_000128.1:p.Gln279=
ENST00000561421.6:c.836A= MANE Select	ENSP00000453347.2:p.Gln279=
NM_000137.2:c.836A=	NP_000128.1:p.Gln279=
NM_001374377.1:c.836A=	NP_001361306.1:p.Gln279=
NM_001374380.1:c.836A=	NP_001361309.1:p.Gln279=
ENST00000261755.9:c.836A=	ENSP00000261755.5:p.Gln279=
ENST00000407106.5:c.836A=	ENSP00000385080.1:p.Gln279=
ENST00000539156.5:c.626A=	ENSP00000454271.1:p.Gln209=
ENST00000558627.1:n.764A=
ENST00000559542.1:n.172A=
ENST00000561421.5:c.836A=	ENSP00000453347.1:p.Gln279=
ENST00000646551.1:n.2450A=
ENST00000682012.1:n.925A=
XM_024449872.1:c.836A=	XP_024305640.1:p.Gln279=