Canonical Allele Identifier: CA274011207

Gene: FAH

Linked Data

• ClinVar Variation Id: 1095842
• ClinVar RCV Id: RCV001416866
• dbSNP Id: rs199733231
• gnomAD v4: 15-80153145-G-A
• MyVariant Identifiers: chr15:g.80445487G>A (hg19) ; chr15:g.80153145G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80153145G>A , CM000677.2:g.80153145G>A	GRCh38
NC_000015.9:g.80445487G>A , CM000677.1:g.80445487G>A	GRCh37
NC_000015.8:g.78232542G>A	NCBI36
NG_012833.1:g.5147G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.81+10G>A	ENSP00000507680.1:n.81+10G>A
ENST00000682012.1:n.156+10G>A
ENST00000684363.1:c.81+10G>A	ENSP00000507314.1:n.81+10G>A
ENST00000684569.1:n.126+10G>A
ENST00000561421.6:c.81+10G>A MANE Select	ENSP00000453347.2:n.81+10G>A
ENST00000261755.9:c.81+10G>A	ENSP00000261755.5:n.81+10G>A
ENST00000407106.5:c.81+10G>A	ENSP00000385080.1:n.81+10G>A
ENST00000537726.5:n.163+10G>A
ENST00000558022.5:c.81+10G>A	ENSP00000453152.1:n.81+10G>A
ENST00000558767.5:n.342+10G>A
ENST00000561369.1:n.161+10G>A
ENST00000561421.5:c.81+10G>A	ENSP00000453347.1:n.81+10G>A
NM_000137.2:c.81+10G>A	NP_000128.1:n.81+10G>A
XM_024449872.1:c.81+10G>A	XP_024305640.1:n.81+10G>A
NM_000137.4:c.81+10G>A MANE Select	NP_000128.1:n.81+10G>A
NM_001374377.1:c.81+10G>A	NP_001361306.1:n.81+10G>A
NM_001374380.1:c.81+10G>A	NP_001361309.1:n.81+10G>A