Canonical Allele Identifier: CA491675206

Gene: FAH

Linked Data

• MyVariant Identifiers: chr15:g.80452122C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80159780C>T , CM000677.2:g.80159780C>T	GRCh38
NC_000015.9:g.80452122C>T , CM000677.1:g.80452122C>T	GRCh37
NC_000015.8:g.78239177C>T	NCBI36
NG_012833.1:g.11782C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000558767.6:c.217C>T	ENSP00000507680.1:p.Leu73=
ENST00000682012.1:n.292C>T
ENST00000683593.1:n.94C>T
ENST00000684363.1:c.217C>T	ENSP00000507314.1:p.Leu73=
ENST00000684569.1:n.262C>T
ENST00000561421.6:c.217C>T MANE Select	ENSP00000453347.2:p.Leu73=
ENST00000646551.1:n.1704C>T
ENST00000261755.9:c.217C>T	ENSP00000261755.5:p.Leu73=
ENST00000407106.5:c.217C>T	ENSP00000385080.1:p.Leu73=
ENST00000537726.5:n.299C>T
ENST00000539156.5:c.7C>T	ENSP00000454271.1:p.Leu3=
ENST00000558022.5:c.217C>T	ENSP00000453152.1:p.Leu73=
ENST00000558767.5:n.478C>T
ENST00000561369.1:n.297C>T
ENST00000561421.5:c.217C>T	ENSP00000453347.1:p.Leu73=
NM_000137.2:c.217C>T	NP_000128.1:p.Leu73=
XM_024449872.1:c.217C>T	XP_024305640.1:p.Leu73=
NM_000137.4:c.217C>T MANE Select	NP_000128.1:p.Leu73=
NM_001374377.1:c.217C>T	NP_001361306.1:p.Leu73=
NM_001374380.1:c.217C>T	NP_001361309.1:p.Leu73=