Canonical Allele Identifier: CA2190328061

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80153071T= , CM000677.2:g.80153071T=	GRCh38
NC_000015.9:g.80445413T= , CM000677.1:g.80445413T=	GRCh37
NC_000015.8:g.78232468T=	NCBI36
NG_012833.1:g.5073T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000558767.6:c.17T=	ENSP00000507680.1:p.Val6=
ENST00000682012.1:n.92T=
ENST00000684363.1:c.17T=	ENSP00000507314.1:p.Val6=
ENST00000684569.1:n.62T=
ENST00000561421.6:c.17T= MANE Select	ENSP00000453347.2:p.Val6=
ENST00000261755.9:c.17T=	ENSP00000261755.5:p.Val6=
ENST00000407106.5:c.17T=	ENSP00000385080.1:p.Val6=
ENST00000537726.5:n.99T=
ENST00000558022.5:c.17T=	ENSP00000453152.1:p.Val6=
ENST00000558767.5:n.278T=
ENST00000561369.1:n.97T=
ENST00000561421.5:c.17T=	ENSP00000453347.1:p.Val6=
NM_000137.2:c.17T=	NP_000128.1:p.Val6=
XM_024449872.1:c.17T=	XP_024305640.1:p.Val6=
NM_000137.4:c.17T= MANE Select	NP_000128.1:p.Val6=
NM_001374377.1:c.17T=	NP_001361306.1:p.Val6=
NM_001374380.1:c.17T=	NP_001361309.1:p.Val6=