Canonical Allele Identifier: CA2552439832

Gene: FAH

Linked Data

• gnomAD v3: 15-80152863-C-G
• gnomAD v4: 15-80152863-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152863C>G , CM000677.2:g.80152863C>G	GRCh38
NC_000015.9:g.80445205C>G , CM000677.1:g.80445205C>G	GRCh37
NC_000015.8:g.78232260C>G	NCBI36
NG_012833.1:g.4865C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-192C>G	ENSP00000507680.1:n.-192C>G
ENST00000261755.9:c.-30+22C>G	ENSP00000261755.5:n.-30+22C>G
ENST00000407106.5:c.-72C>G	ENSP00000385080.1:n.-72C>G
ENST00000537726.5:n.53+22C>G
ENST00000558022.5:c.-29-163C>G	ENSP00000453152.1:n.-29-163C>G
ENST00000558767.5:n.70C>G
ENST00000561369.1:n.9C>G
XM_024449872.1:c.-72C>G	XP_024305640.1:n.-72C>G
NM_001374377.1:c.-72C>G	NP_001361306.1:n.-72C>G
NM_001374380.1:c.-30+22C>G	NP_001361309.1:n.-30+22C>G