Canonical Allele Identifier: CA2190318178

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80186226C= , CM000677.2:g.80186226C=	GRCh38
NC_000015.9:g.80478568C= , CM000677.1:g.80478568C=	GRCh37
NC_000015.8:g.78265623C=	NCBI36
NG_012833.1:g.38228C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1366C=
ENST00000561421.6:c.*17C= MANE Select	ENSP00000453347.2:n.*17C=
ENST00000646551.1:n.2891C=
ENST00000261755.9:c.*17C=	ENSP00000261755.5:n.*17C=
ENST00000407106.5:c.*17C=	ENSP00000385080.1:n.*17C=
ENST00000539156.5:c.*17C=	ENSP00000454271.1:n.*17C=
ENST00000559217.1:n.494C=
ENST00000561421.5:c.*17C=	ENSP00000453347.1:n.*17C=
NM_000137.2:c.*17C=	NP_000128.1:n.*17C=
XM_024449872.1:c.*17C=	XP_024305640.1:n.*17C=
NM_000137.4:c.*17C= MANE Select	NP_000128.1:n.*17C=
NM_001374377.1:c.*17C=	NP_001361306.1:n.*17C=
NM_001374380.1:c.*17C=	NP_001361309.1:n.*17C=