Canonical Allele Identifier: CA2190338833

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80173093G= , CM000677.2:g.80173093G=	GRCh38
NC_000015.9:g.80465435G= , CM000677.1:g.80465435G=	GRCh37
NC_000015.8:g.78252490G=	NCBI36
NG_012833.1:g.25095G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000137.4:c.786G= MANE Select	NP_000128.1:p.Trp262=
ENST00000561421.6:c.786G= MANE Select	ENSP00000453347.2:p.Trp262=
NM_000137.2:c.786G=	NP_000128.1:p.Trp262=
NM_001374377.1:c.786G=	NP_001361306.1:p.Trp262=
NM_001374380.1:c.786G=	NP_001361309.1:p.Trp262=
ENST00000261755.9:c.786G=	ENSP00000261755.5:p.Trp262=
ENST00000407106.5:c.786G=	ENSP00000385080.1:p.Trp262=
ENST00000539156.5:c.576G=	ENSP00000454271.1:p.Trp192=
ENST00000558627.1:n.714G=
ENST00000559542.1:n.122G=
ENST00000561421.5:c.786G=	ENSP00000453347.1:p.Trp262=
ENST00000646551.1:n.2400G=
ENST00000682012.1:n.875G=
XM_024449872.1:c.786G=	XP_024305640.1:p.Trp262=