Canonical Allele Identifier: CA2190318147

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80186207T= , CM000677.2:g.80186207T=	GRCh38
NC_000015.9:g.80478549T= , CM000677.1:g.80478549T=	GRCh37
NC_000015.8:g.78265604T=	NCBI36
NG_012833.1:g.38209T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000137.4:c.1258T= MANE Select	NP_000128.1:p.Ter420=
ENST00000561421.6:c.1258T= MANE Select	ENSP00000453347.2:p.Ter420=
NM_000137.2:c.1258T=	NP_000128.1:p.Ter420=
NM_001374377.1:c.1258T=	NP_001361306.1:p.Ter420=
NM_001374380.1:c.1258T=	NP_001361309.1:p.Ter420=
ENST00000261755.9:c.1258T=	ENSP00000261755.5:p.Ter420=
ENST00000407106.5:c.1258T=	ENSP00000385080.1:p.Ter420=
ENST00000539156.5:c.1048T=	ENSP00000454271.1:p.Ter350=
ENST00000559217.1:n.475T=
ENST00000561421.5:c.1258T=	ENSP00000453347.1:p.Ter420=
ENST00000646551.1:n.2872T=
ENST00000682012.1:n.1347T=
XM_024449872.1:c.1258T=	XP_024305640.1:p.Ter420=