Canonical Allele Identifier: CA2190310920

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80180230G= , CM000677.2:g.80180230G=	GRCh38
NC_000015.9:g.80472572G= , CM000677.1:g.80472572G=	GRCh37
NC_000015.8:g.78259627G=	NCBI36
NG_012833.1:g.32232G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000137.4:c.1062+5G= MANE Select	NP_000128.1:n.1062+5G=
ENST00000561421.6:c.1062+5G= MANE Select	ENSP00000453347.2:n.1062+5G=
NM_000137.2:c.1062+5G=	NP_000128.1:n.1062+5G=
NM_001374377.1:c.1062+5G=	NP_001361306.1:n.1062+5G=
NM_001374380.1:c.1062+5G=	NP_001361309.1:n.1062+5G=
ENST00000261755.9:c.1062+5G=	ENSP00000261755.5:n.1062+5G=
ENST00000407106.5:c.1062+5G=	ENSP00000385080.1:n.1062+5G=
ENST00000539156.5:c.852+5G=	ENSP00000454271.1:n.852+5G=
ENST00000559217.1:n.279+5G=
ENST00000561353.2:c.165G=
ENST00000561421.5:c.1062+5G=	ENSP00000453347.1:n.1062+5G=
ENST00000646551.1:n.2676+5G=
ENST00000682012.1:n.1151+5G=
XM_024449872.1:c.1062+5G=	XP_024305640.1:n.1062+5G=