Canonical Allele Identifier: CA2190310614

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80180162C= , CM000677.2:g.80180162C=	GRCh38
NC_000015.9:g.80472504C= , CM000677.1:g.80472504C=	GRCh37
NC_000015.8:g.78259559C=	NCBI36
NG_012833.1:g.32164C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1088C=
ENST00000561421.6:c.999C= MANE Select	ENSP00000453347.2:p.His333=
ENST00000646551.1:n.2613C=
ENST00000261755.9:c.999C=	ENSP00000261755.5:p.His333=
ENST00000407106.5:c.999C=	ENSP00000385080.1:p.His333=
ENST00000539156.5:c.789C=	ENSP00000454271.1:p.His263=
ENST00000559217.1:n.216C=
ENST00000561353.2:c.97C=
ENST00000561421.5:c.999C=	ENSP00000453347.1:p.His333=
NM_000137.2:c.999C=	NP_000128.1:p.His333=
XM_024449872.1:c.999C=	XP_024305640.1:p.His333=
NM_000137.4:c.999C= MANE Select	NP_000128.1:p.His333=
NM_001374377.1:c.999C=	NP_001361306.1:p.His333=
NM_001374380.1:c.999C=	NP_001361309.1:p.His333=