Canonical Allele Identifier: CA2190333889

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162270C= , CM000677.2:g.80162270C=	GRCh38
NC_000015.9:g.80454612C= , CM000677.1:g.80454612C=	GRCh37
NC_000015.8:g.78241667C=	NCBI36
NG_012833.1:g.14272C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.389C=	ENSP00000507680.1:p.Ser130=
ENST00000682012.1:n.464C=
ENST00000683593.1:n.2052C=
ENST00000684363.1:c.365-122C=	ENSP00000507314.1:n.365-122C=
ENST00000684569.1:n.434C=
ENST00000561421.6:c.389C= MANE Select	ENSP00000453347.2:p.Ser130=
ENST00000646551.1:n.1876C=
ENST00000261755.9:c.389C=	ENSP00000261755.5:p.Ser130=
ENST00000407106.5:c.389C=	ENSP00000385080.1:p.Ser130=
ENST00000537726.5:n.535C=
ENST00000539156.5:c.179C=	ENSP00000454271.1:p.Ser60=
ENST00000558022.5:c.389C=	ENSP00000453152.1:p.Ser130=
ENST00000558627.1:n.317C=
ENST00000558767.5:n.650C=
ENST00000561369.1:n.533C=
ENST00000561421.5:c.389C=	ENSP00000453347.1:p.Ser130=
NM_000137.2:c.389C=	NP_000128.1:p.Ser130=
XM_024449872.1:c.389C=	XP_024305640.1:p.Ser130=
NM_000137.4:c.389C= MANE Select	NP_000128.1:p.Ser130=
NM_001374377.1:c.389C=	NP_001361306.1:p.Ser130=
NM_001374380.1:c.389C=	NP_001361309.1:p.Ser130=