Canonical Allele Identifier: CA274010705

Gene: FAH

Linked Data

• dbSNP Id: rs558270453
• gnomAD v2: 15-80444998-T-G
• gnomAD v3: 15-80152656-T-G
• gnomAD v4: 15-80152656-T-G
• MyVariant Identifiers: chr15:g.80444998T>G (hg19) ; chr15:g.80152656T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152656T>G , CM000677.2:g.80152656T>G	GRCh38
NC_000015.9:g.80444998T>G , CM000677.1:g.80444998T>G	GRCh37
NC_000015.8:g.78232053T>G	NCBI36
NG_012833.1:g.4658T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+111T>G	ENSP00000453152.1:n.-30+111T>G