Canonical Allele Identifier: CA491688085

Gene: FAH

Linked Data

• ClinVar Variation Id: 1127712
• ClinVar RCV Id: RCV001460223
• dbSNP Id: rs776473288
• gnomAD v2: 15-80472480-G-A
• gnomAD v4: 15-80180138-G-A
• MyVariant Identifiers: chr15:g.80472480G>A (hg19) ; chr15:g.80180138G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80180138G>A , CM000677.2:g.80180138G>A	GRCh38
NC_000015.9:g.80472480G>A , CM000677.1:g.80472480G>A	GRCh37
NC_000015.8:g.78259535G>A	NCBI36
NG_012833.1:g.32140G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1064G>A
ENST00000561421.6:c.975G>A MANE Select	ENSP00000453347.2:p.Thr325=
ENST00000646551.1:n.2589G>A
ENST00000261755.9:c.975G>A	ENSP00000261755.5:p.Thr325=
ENST00000407106.5:c.975G>A	ENSP00000385080.1:p.Thr325=
ENST00000539156.5:c.765G>A	ENSP00000454271.1:p.Thr255=
ENST00000559217.1:n.192G>A
ENST00000561353.2:c.73G>A
ENST00000561421.5:c.975G>A	ENSP00000453347.1:p.Thr325=
NM_000137.2:c.975G>A	NP_000128.1:p.Thr325=
XM_024449872.1:c.975G>A	XP_024305640.1:p.Thr325=
NM_000137.4:c.975G>A MANE Select	NP_000128.1:p.Thr325=
NM_001374377.1:c.975G>A	NP_001361306.1:p.Thr325=
NM_001374380.1:c.975G>A	NP_001361309.1:p.Thr325=