Canonical Allele Identifier: CA2190332759

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80159830G= , CM000677.2:g.80159830G=	GRCh38
NC_000015.9:g.80452172G= , CM000677.1:g.80452172G=	GRCh37
NC_000015.8:g.78239227G=	NCBI36
NG_012833.1:g.11832G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.267G=	ENSP00000507680.1:p.Leu89=
ENST00000682012.1:n.342G=
ENST00000683593.1:n.144G=
ENST00000684363.1:c.267G=	ENSP00000507314.1:p.Leu89=
ENST00000684569.1:n.312G=
ENST00000561421.6:c.267G= MANE Select	ENSP00000453347.2:p.Leu89=
ENST00000646551.1:n.1754G=
ENST00000261755.9:c.267G=	ENSP00000261755.5:p.Leu89=
ENST00000407106.5:c.267G=	ENSP00000385080.1:p.Leu89=
ENST00000537726.5:n.349G=
ENST00000539156.5:c.57G=	ENSP00000454271.1:p.Leu19=
ENST00000558022.5:c.267G=	ENSP00000453152.1:p.Leu89=
ENST00000558767.5:n.528G=
ENST00000561369.1:n.347G=
ENST00000561421.5:c.267G=	ENSP00000453347.1:p.Leu89=
NM_000137.2:c.267G=	NP_000128.1:p.Leu89=
XM_024449872.1:c.267G=	XP_024305640.1:p.Leu89=
NM_000137.4:c.267G= MANE Select	NP_000128.1:p.Leu89=
NM_001374377.1:c.267G=	NP_001361306.1:p.Leu89=
NM_001374380.1:c.267G=	NP_001361309.1:p.Leu89=