Canonical Allele Identifier: CA2190336643

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168290A= , CM000677.2:g.80168290A=	GRCh38
NC_000015.9:g.80460632A= , CM000677.1:g.80460632A=	GRCh37
NC_000015.8:g.78247687A=	NCBI36
NG_012833.1:g.20292A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.769A=
ENST00000684569.1:n.625A=
ENST00000561421.6:c.580A= MANE Select	ENSP00000453347.2:p.Lys194=
ENST00000646551.1:n.2207A=
ENST00000261755.9:c.580A=	ENSP00000261755.5:p.Lys194=
ENST00000407106.5:c.580A=	ENSP00000385080.1:p.Lys194=
ENST00000539156.5:c.370A=	ENSP00000454271.1:p.Lys124=
ENST00000558514.1:n.126A=
ENST00000558627.1:n.508A=
ENST00000561421.5:c.580A=	ENSP00000453347.1:p.Lys194=
NM_000137.2:c.580A=	NP_000128.1:p.Lys194=
XM_024449872.1:c.580A=	XP_024305640.1:p.Lys194=
NM_000137.4:c.580A= MANE Select	NP_000128.1:p.Lys194=
NM_001374377.1:c.580A=	NP_001361306.1:p.Lys194=
NM_001374380.1:c.580A=	NP_001361309.1:p.Lys194=