Canonical Allele Identifier: CA2629872823

Gene: FAH

Linked Data

• gnomAD v4: 15-80152812-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152812G>T , CM000677.2:g.80152812G>T	GRCh38
NC_000015.9:g.80445154G>T , CM000677.1:g.80445154G>T	GRCh37
NC_000015.8:g.78232209G>T	NCBI36
NG_012833.1:g.4814G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-243G>T	ENSP00000507680.1:n.-243G>T
ENST00000261755.9:c.-59G>T	ENSP00000261755.5:n.-59G>T
ENST00000407106.5:c.-123G>T	ENSP00000385080.1:n.-123G>T
ENST00000537726.5:n.24G>T
ENST00000558022.5:c.-29-214G>T	ENSP00000453152.1:n.-29-214G>T
ENST00000558767.5:n.19G>T
NM_001374377.1:c.-123G>T	NP_001361306.1:n.-123G>T
NM_001374380.1:c.-59G>T	NP_001361309.1:n.-59G>T