Canonical Allele Identifier: CA7691063

Gene: FAH

Linked Data

• ClinVar Variation Id: 317209
• ClinVar RCV Id: RCV000877385
• dbSNP Id: rs370095143
• ExAC: 15:80452154 G / A
• gnomAD v2: 15-80452154-G-A
• gnomAD v3: 15-80159812-G-A
• gnomAD v4: 15-80159812-G-A
• MyVariant Identifiers: chr15:g.80452154G>A (hg19) ; chr15:g.80159812G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80159812G>A , CM000677.2:g.80159812G>A	GRCh38
NC_000015.9:g.80452154G>A , CM000677.1:g.80452154G>A	GRCh37
NC_000015.8:g.78239209G>A	NCBI36
NG_012833.1:g.11814G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.249G>A	ENSP00000507680.1:p.Val83=
ENST00000682012.1:n.324G>A
ENST00000683593.1:n.126G>A
ENST00000684363.1:c.249G>A	ENSP00000507314.1:p.Val83=
ENST00000684569.1:n.294G>A
ENST00000561421.6:c.249G>A MANE Select	ENSP00000453347.2:p.Val83=
ENST00000646551.1:n.1736G>A
ENST00000261755.9:c.249G>A	ENSP00000261755.5:p.Val83=
ENST00000407106.5:c.249G>A	ENSP00000385080.1:p.Val83=
ENST00000537726.5:n.331G>A
ENST00000539156.5:c.39G>A	ENSP00000454271.1:p.Val13=
ENST00000558022.5:c.249G>A	ENSP00000453152.1:p.Val83=
ENST00000558767.5:n.510G>A
ENST00000561369.1:n.329G>A
ENST00000561421.5:c.249G>A	ENSP00000453347.1:p.Val83=
NM_000137.2:c.249G>A	NP_000128.1:p.Val83=
XM_024449872.1:c.249G>A	XP_024305640.1:p.Val83=
NM_000137.4:c.249G>A MANE Select	NP_000128.1:p.Val83=
NM_001374377.1:c.249G>A	NP_001361306.1:p.Val83=
NM_001374380.1:c.249G>A	NP_001361309.1:p.Val83=