Canonical Allele Identifier: CA619266172

Gene: FAH

Linked Data

• dbSNP Id: rs1259314827
• gnomAD v2: 15-80445094-C-T
• gnomAD v3: 15-80152752-C-T
• gnomAD v4: 15-80152752-C-T
• MyVariant Identifiers: chr15:g.80445094C>T (hg19) ; chr15:g.80152752C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152752C>T , CM000677.2:g.80152752C>T	GRCh38
NC_000015.9:g.80445094C>T , CM000677.1:g.80445094C>T	GRCh37
NC_000015.8:g.78232149C>T	NCBI36
NG_012833.1:g.4754C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+207C>T	ENSP00000453152.1:n.-30+207C>T