Canonical Allele Identifier: CA2190340928

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80177583G= , CM000677.2:g.80177583G=	GRCh38
NC_000015.9:g.80469925G= , CM000677.1:g.80469925G=	GRCh37
NC_000015.8:g.78256980G=	NCBI36
NG_012833.1:g.29585G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1049G=
ENST00000561421.6:c.960G= MANE Select	ENSP00000453347.2:p.Lys320=
ENST00000646551.1:n.2574G=
ENST00000261755.9:c.960G=	ENSP00000261755.5:p.Lys320=
ENST00000407106.5:c.960G=	ENSP00000385080.1:p.Lys320=
ENST00000539156.5:c.750G=	ENSP00000454271.1:p.Lys250=
ENST00000559217.1:n.177G=
ENST00000561353.2:c.58G=
ENST00000561421.5:c.960G=	ENSP00000453347.1:p.Lys320=
NM_000137.2:c.960G=	NP_000128.1:p.Lys320=
XM_024449872.1:c.960G=	XP_024305640.1:p.Lys320=
NM_000137.4:c.960G= MANE Select	NP_000128.1:p.Lys320=
NM_001374377.1:c.960G=	NP_001361306.1:p.Lys320=
NM_001374380.1:c.960G=	NP_001361309.1:p.Lys320=