Canonical Allele Identifier: CA2629872814

Gene: FAH

Linked Data

• gnomAD v4: 15-80152808-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152808G>A , CM000677.2:g.80152808G>A	GRCh38
NC_000015.9:g.80445150G>A , CM000677.1:g.80445150G>A	GRCh37
NC_000015.8:g.78232205G>A	NCBI36
NG_012833.1:g.4810G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-247G>A	ENSP00000507680.1:n.-247G>A
ENST00000261755.9:c.-63G>A	ENSP00000261755.5:n.-63G>A
ENST00000407106.5:c.-127G>A	ENSP00000385080.1:n.-127G>A
ENST00000537726.5:n.20G>A
ENST00000558022.5:c.-29-218G>A	ENSP00000453152.1:n.-29-218G>A
ENST00000558767.5:n.15G>A
NM_001374377.1:c.-127G>A	NP_001361306.1:n.-127G>A
NM_001374380.1:c.-63G>A	NP_001361309.1:n.-63G>A