Canonical Allele Identifier: CA971894550

Gene: FAH

Linked Data

• gnomAD v3: 15-80152922-T-G
• gnomAD v4: 15-80152922-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152922T>G , CM000677.2:g.80152922T>G	GRCh38
NC_000015.9:g.80445264T>G , CM000677.1:g.80445264T>G	GRCh37
NC_000015.8:g.78232319T>G	NCBI36
NG_012833.1:g.4924T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-133T>G	ENSP00000507680.1:n.-133T>G
ENST00000261755.9:c.-30+81T>G	ENSP00000261755.5:n.-30+81T>G
ENST00000407106.5:c.-30+17T>G	ENSP00000385080.1:n.-30+17T>G
ENST00000537726.5:n.53+81T>G
ENST00000558022.5:c.-29-104T>G	ENSP00000453152.1:n.-29-104T>G
ENST00000558767.5:n.129T>G
ENST00000561369.1:n.51+17T>G
ENST00000561421.5:c.-133T>G	ENSP00000453347.1:n.-133T>G
NM_000137.2:c.-133T>G	NP_000128.1:n.-133T>G
XM_024449872.1:c.-30+17T>G	XP_024305640.1:n.-30+17T>G
NM_001374377.1:c.-30+17T>G	NP_001361306.1:n.-30+17T>G
NM_001374380.1:c.-30+81T>G	NP_001361309.1:n.-30+81T>G