Canonical Allele Identifier: CA971894374

Gene: FAH

Linked Data

• gnomAD v3: 15-80152805-C-T
• gnomAD v4: 15-80152805-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152805C>T , CM000677.2:g.80152805C>T	GRCh38
NC_000015.9:g.80445147C>T , CM000677.1:g.80445147C>T	GRCh37
NC_000015.8:g.78232202C>T	NCBI36
NG_012833.1:g.4807C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-250C>T	ENSP00000507680.1:n.-250C>T
ENST00000261755.9:c.-66C>T	ENSP00000261755.5:n.-66C>T
ENST00000407106.5:c.-130C>T	ENSP00000385080.1:n.-130C>T
ENST00000537726.5:n.17C>T
ENST00000558022.5:c.-29-221C>T	ENSP00000453152.1:n.-29-221C>T
ENST00000558767.5:n.12C>T
NM_001374377.1:c.-130C>T	NP_001361306.1:n.-130C>T
NM_001374380.1:c.-66C>T	NP_001361309.1:n.-66C>T