Canonical Allele Identifier: CA2190333891

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162272C= , CM000677.2:g.80162272C=	GRCh38
NC_000015.9:g.80454614C= , CM000677.1:g.80454614C=	GRCh37
NC_000015.8:g.78241669C=	NCBI36
NG_012833.1:g.14274C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.391C=	ENSP00000507680.1:p.Arg131=
ENST00000682012.1:n.466C=
ENST00000683593.1:n.2054C=
ENST00000684363.1:c.365-120C=	ENSP00000507314.1:n.365-120C=
ENST00000684569.1:n.436C=
ENST00000561421.6:c.391C= MANE Select	ENSP00000453347.2:p.Arg131=
ENST00000646551.1:n.1878C=
ENST00000261755.9:c.391C=	ENSP00000261755.5:p.Arg131=
ENST00000407106.5:c.391C=	ENSP00000385080.1:p.Arg131=
ENST00000537726.5:n.537C=
ENST00000539156.5:c.181C=	ENSP00000454271.1:p.Arg61=
ENST00000558022.5:c.391C=	ENSP00000453152.1:p.Arg131=
ENST00000558627.1:n.319C=
ENST00000558767.5:n.652C=
ENST00000561369.1:n.535C=
ENST00000561421.5:c.391C=	ENSP00000453347.1:p.Arg131=
NM_000137.2:c.391C=	NP_000128.1:p.Arg131=
XM_024449872.1:c.391C=	XP_024305640.1:p.Arg131=
NM_000137.4:c.391C= MANE Select	NP_000128.1:p.Arg131=
NM_001374377.1:c.391C=	NP_001361306.1:p.Arg131=
NM_001374380.1:c.391C=	NP_001361309.1:p.Arg131=