Canonical Allele Identifier: CA2562421627

Gene: FAH

Linked Data

• gnomAD v4: 15-80152822-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152822T>G , CM000677.2:g.80152822T>G	GRCh38
NC_000015.9:g.80445164T>G , CM000677.1:g.80445164T>G	GRCh37
NC_000015.8:g.78232219T>G	NCBI36
NG_012833.1:g.4824T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-233T>G	ENSP00000507680.1:n.-233T>G
ENST00000261755.9:c.-49T>G	ENSP00000261755.5:n.-49T>G
ENST00000407106.5:c.-113T>G	ENSP00000385080.1:n.-113T>G
ENST00000537726.5:n.34T>G
ENST00000558022.5:c.-29-204T>G	ENSP00000453152.1:n.-29-204T>G
ENST00000558767.5:n.29T>G
NM_001374377.1:c.-113T>G	NP_001361306.1:n.-113T>G
NM_001374380.1:c.-49T>G	NP_001361309.1:n.-49T>G