Canonical Allele Identifier: CA491688083

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80180126C>T , CM000677.2:g.80180126C>T	GRCh38
NC_000015.9:g.80472468C>T , CM000677.1:g.80472468C>T	GRCh37
NC_000015.8:g.78259523C>T	NCBI36
NG_012833.1:g.32128C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000137.4:c.963C>T MANE Select	NP_000128.1:p.Tyr321=
ENST00000561421.6:c.963C>T MANE Select	ENSP00000453347.2:p.Tyr321=
NM_000137.2:c.963C>T	NP_000128.1:p.Tyr321=
NM_001374377.1:c.963C>T	NP_001361306.1:p.Tyr321=
NM_001374380.1:c.963C>T	NP_001361309.1:p.Tyr321=
ENST00000261755.9:c.963C>T	ENSP00000261755.5:p.Tyr321=
ENST00000407106.5:c.963C>T	ENSP00000385080.1:p.Tyr321=
ENST00000539156.5:c.753C>T	ENSP00000454271.1:p.Tyr251=
ENST00000559217.1:n.180C>T
ENST00000561353.2:c.61C>T
ENST00000561421.5:c.963C>T	ENSP00000453347.1:p.Tyr321=
ENST00000646551.1:n.2577C>T
ENST00000682012.1:n.1052C>T
XM_024449872.1:c.963C>T	XP_024305640.1:p.Tyr321=