Canonical Allele Identifier: CA2190333894

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162276A= , CM000677.2:g.80162276A=	GRCh38
NC_000015.9:g.80454618A= , CM000677.1:g.80454618A=	GRCh37
NC_000015.8:g.78241673A=	NCBI36
NG_012833.1:g.14278A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.395A=	ENSP00000507680.1:p.Gln132=
ENST00000682012.1:n.470A=
ENST00000683593.1:n.2058A=
ENST00000684363.1:c.365-116A=	ENSP00000507314.1:n.365-116A=
ENST00000684569.1:n.440A=
ENST00000561421.6:c.395A= MANE Select	ENSP00000453347.2:p.Gln132=
ENST00000646551.1:n.1882A=
ENST00000261755.9:c.395A=	ENSP00000261755.5:p.Gln132=
ENST00000407106.5:c.395A=	ENSP00000385080.1:p.Gln132=
ENST00000537726.5:n.541A=
ENST00000539156.5:c.185A=	ENSP00000454271.1:p.Gln62=
ENST00000558022.5:c.395A=	ENSP00000453152.1:p.Gln132=
ENST00000558627.1:n.323A=
ENST00000558767.5:n.656A=
ENST00000561369.1:n.539A=
ENST00000561421.5:c.395A=	ENSP00000453347.1:p.Gln132=
NM_000137.2:c.395A=	NP_000128.1:p.Gln132=
XM_024449872.1:c.395A=	XP_024305640.1:p.Gln132=
NM_000137.4:c.395A= MANE Select	NP_000128.1:p.Gln132=
NM_001374377.1:c.395A=	NP_001361306.1:p.Gln132=
NM_001374380.1:c.395A=	NP_001361309.1:p.Gln132=