Canonical Allele Identifier: CA491671852

Gene: FAH

Linked Data

• dbSNP Id: rs1228682934
• gnomAD v2: 15-80445420-G-A
• gnomAD v4: 15-80153078-G-A
• MyVariant Identifiers: chr15:g.80445420G>A (hg19) ; chr15:g.80153078G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80153078G>A , CM000677.2:g.80153078G>A	GRCh38
NC_000015.9:g.80445420G>A , CM000677.1:g.80445420G>A	GRCh37
NC_000015.8:g.78232475G>A	NCBI36
NG_012833.1:g.5080G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000558767.6:c.24G>A	ENSP00000507680.1:p.Glu8=
ENST00000682012.1:n.99G>A
ENST00000684363.1:c.24G>A	ENSP00000507314.1:p.Glu8=
ENST00000684569.1:n.69G>A
ENST00000561421.6:c.24G>A MANE Select	ENSP00000453347.2:p.Glu8=
ENST00000261755.9:c.24G>A	ENSP00000261755.5:p.Glu8=
ENST00000407106.5:c.24G>A	ENSP00000385080.1:p.Glu8=
ENST00000537726.5:n.106G>A
ENST00000558022.5:c.24G>A	ENSP00000453152.1:p.Glu8=
ENST00000558767.5:n.285G>A
ENST00000561369.1:n.104G>A
ENST00000561421.5:c.24G>A	ENSP00000453347.1:p.Glu8=
NM_000137.2:c.24G>A	NP_000128.1:p.Glu8=
XM_024449872.1:c.24G>A	XP_024305640.1:p.Glu8=
NM_000137.4:c.24G>A MANE Select	NP_000128.1:p.Glu8=
NM_001374377.1:c.24G>A	NP_001361306.1:p.Glu8=
NM_001374380.1:c.24G>A	NP_001361309.1:p.Glu8=