Canonical Allele Identifier: CA7691447

Gene: FAH

Linked Data

• ClinVar Variation Id: 1020250
• ClinVar RCV Id: RCV001319802
• dbSNP Id: rs376563006
• ExAC: 15:80472544 G / A
• gnomAD v2: 15-80472544-G-A
• gnomAD v3: 15-80180202-G-A
• gnomAD v4: 15-80180202-G-A
• MyVariant Identifiers: chr15:g.80472544G>A (hg19) ; chr15:g.80180202G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80180202G>A , CM000677.2:g.80180202G>A	GRCh38
NC_000015.9:g.80472544G>A , CM000677.1:g.80472544G>A	GRCh37
NC_000015.8:g.78259599G>A	NCBI36
NG_012833.1:g.32204G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682012.1:n.1128G>A
ENST00000561421.6:c.1039G>A MANE Select	ENSP00000453347.2:p.Ala347Thr
ENST00000646551.1:n.2653G>A
ENST00000261755.9:c.1039G>A	ENSP00000261755.5:p.Ala347Thr
ENST00000407106.5:c.1039G>A	ENSP00000385080.1:p.Ala347Thr
ENST00000539156.5:c.829G>A	ENSP00000454271.1:p.Ala277Thr
ENST00000559217.1:n.256G>A
ENST00000561353.2:c.137G>A
ENST00000561421.5:c.1039G>A	ENSP00000453347.1:p.Ala347Thr
NM_000137.2:c.1039G>A	NP_000128.1:p.Ala347Thr
XM_024449872.1:c.1039G>A	XP_024305640.1:p.Ala347Thr
NM_000137.4:c.1039G>A MANE Select	NP_000128.1:p.Ala347Thr
NM_001374377.1:c.1039G>A	NP_001361306.1:p.Ala347Thr
NM_001374380.1:c.1039G>A	NP_001361309.1:p.Ala347Thr