Canonical Allele Identifier: CA971893854

Gene: FAH

Linked Data

• gnomAD v3: 15-80152658-A-AGG
• gnomAD v4: 15-80152658-A-AGG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152660_80152661dup , CM000677.2:g.80152660_80152661dup	GRCh38
NC_000015.9:g.80445002_80445003dup , CM000677.1:g.80445002_80445003dup	GRCh37
NC_000015.8:g.78232057_78232058dup	NCBI36
NG_012833.1:g.4662_4663dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+115_-30+116dup	ENSP00000453152.1:n.-30+115_-30+116dup