Canonical Allele Identifier: CA3212270805

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162319T= , CM000677.2:g.80162319T=	GRCh38
NC_000015.9:g.80454661T= , CM000677.1:g.80454661T=	GRCh37
NC_000015.8:g.78241716T=	NCBI36
NG_012833.1:g.14321T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000137.4:c.438T= MANE Select	NP_000128.1:p.Asn146=
ENST00000561421.6:c.438T= MANE Select	ENSP00000453347.2:p.Asn146=
NM_000137.2:c.438T=	NP_000128.1:p.Asn146=
NM_001374377.1:c.438T=	NP_001361306.1:p.Asn146=
NM_001374380.1:c.438T=	NP_001361309.1:p.Asn146=
ENST00000261755.9:c.438T=	ENSP00000261755.5:p.Asn146=
ENST00000407106.5:c.438T=	ENSP00000385080.1:p.Asn146=
ENST00000537726.5:n.584T=
ENST00000539156.5:c.228T=	ENSP00000454271.1:p.Asn76=
ENST00000558022.5:c.438T=	ENSP00000453152.1:p.Asn146=
ENST00000558627.1:n.366T=
ENST00000558767.5:n.699T=
ENST00000558767.6:c.438T=	ENSP00000507680.1:p.Asn146=
ENST00000561369.1:n.582T=
ENST00000561421.5:c.438T=	ENSP00000453347.1:p.Asn146=
ENST00000646551.1:n.1925T=
ENST00000682012.1:n.513T=
ENST00000683593.1:n.2101T=
ENST00000684363.1:c.365-73T=	ENSP00000507314.1:n.365-73T=
ENST00000684569.1:n.483T=
XM_024449872.1:c.438T=	XP_024305640.1:p.Asn146=