Canonical Allele Identifier: CA2190332784

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80159865A= , CM000677.2:g.80159865A=	GRCh38
NC_000015.9:g.80452207A= , CM000677.1:g.80452207A=	GRCh37
NC_000015.8:g.78239262A=	NCBI36
NG_012833.1:g.11867A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.302A=	ENSP00000507680.1:p.Glu101=
ENST00000682012.1:n.377A=
ENST00000683593.1:n.179A=
ENST00000684363.1:c.302A=	ENSP00000507314.1:p.Glu101=
ENST00000684569.1:n.347A=
ENST00000561421.6:c.302A= MANE Select	ENSP00000453347.2:p.Glu101=
ENST00000646551.1:n.1789A=
ENST00000261755.9:c.302A=	ENSP00000261755.5:p.Glu101=
ENST00000407106.5:c.302A=	ENSP00000385080.1:p.Glu101=
ENST00000537726.5:n.384A=
ENST00000539156.5:c.92A=	ENSP00000454271.1:p.Glu31=
ENST00000558022.5:c.302A=	ENSP00000453152.1:p.Glu101=
ENST00000558767.5:n.563A=
ENST00000561369.1:n.382A=
ENST00000561421.5:c.302A=	ENSP00000453347.1:p.Glu101=
NM_000137.2:c.302A=	NP_000128.1:p.Glu101=
XM_024449872.1:c.302A=	XP_024305640.1:p.Glu101=
NM_000137.4:c.302A= MANE Select	NP_000128.1:p.Glu101=
NM_001374377.1:c.302A=	NP_001361306.1:p.Glu101=
NM_001374380.1:c.302A=	NP_001361309.1:p.Glu101=