Canonical Allele Identifier: CA491671832

Gene: FAH

Linked Data

• MyVariant Identifiers: chr15:g.80445414G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80153072G>C , CM000677.2:g.80153072G>C	GRCh38
NC_000015.9:g.80445414G>C , CM000677.1:g.80445414G>C	GRCh37
NC_000015.8:g.78232469G>C	NCBI36
NG_012833.1:g.5074G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000558767.6:c.18G>C	ENSP00000507680.1:p.Val6=
ENST00000682012.1:n.93G>C
ENST00000684363.1:c.18G>C	ENSP00000507314.1:p.Val6=
ENST00000684569.1:n.63G>C
ENST00000561421.6:c.18G>C MANE Select	ENSP00000453347.2:p.Val6=
ENST00000261755.9:c.18G>C	ENSP00000261755.5:p.Val6=
ENST00000407106.5:c.18G>C	ENSP00000385080.1:p.Val6=
ENST00000537726.5:n.100G>C
ENST00000558022.5:c.18G>C	ENSP00000453152.1:p.Val6=
ENST00000558767.5:n.279G>C
ENST00000561369.1:n.98G>C
ENST00000561421.5:c.18G>C	ENSP00000453347.1:p.Val6=
NM_000137.2:c.18G>C	NP_000128.1:p.Val6=
XM_024449872.1:c.18G>C	XP_024305640.1:p.Val6=
NM_000137.4:c.18G>C MANE Select	NP_000128.1:p.Val6=
NM_001374377.1:c.18G>C	NP_001361306.1:p.Val6=
NM_001374380.1:c.18G>C	NP_001361309.1:p.Val6=