Canonical Allele Identifier: CA2190332743

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80159794C= , CM000677.2:g.80159794C=	GRCh38
NC_000015.9:g.80452136C= , CM000677.1:g.80452136C=	GRCh37
NC_000015.8:g.78239191C=	NCBI36
NG_012833.1:g.11796C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.231C=	ENSP00000507680.1:p.Ala77=
ENST00000682012.1:n.306C=
ENST00000683593.1:n.108C=
ENST00000684363.1:c.231C=	ENSP00000507314.1:p.Ala77=
ENST00000684569.1:n.276C=
ENST00000561421.6:c.231C= MANE Select	ENSP00000453347.2:p.Ala77=
ENST00000646551.1:n.1718C=
ENST00000261755.9:c.231C=	ENSP00000261755.5:p.Ala77=
ENST00000407106.5:c.231C=	ENSP00000385080.1:p.Ala77=
ENST00000537726.5:n.313C=
ENST00000539156.5:c.21C=	ENSP00000454271.1:p.Ala7=
ENST00000558022.5:c.231C=	ENSP00000453152.1:p.Ala77=
ENST00000558767.5:n.492C=
ENST00000561369.1:n.311C=
ENST00000561421.5:c.231C=	ENSP00000453347.1:p.Ala77=
NM_000137.2:c.231C=	NP_000128.1:p.Ala77=
XM_024449872.1:c.231C=	XP_024305640.1:p.Ala77=
NM_000137.4:c.231C= MANE Select	NP_000128.1:p.Ala77=
NM_001374377.1:c.231C=	NP_001361306.1:p.Ala77=
NM_001374380.1:c.231C=	NP_001361309.1:p.Ala77=