Canonical Allele Identifier: CA274010711

Gene: FAH

Linked Data

• dbSNP Id: rs578103336
• gnomAD v2: 15-80444999-C-A
• gnomAD v3: 15-80152657-C-A
• gnomAD v4: 15-80152657-C-A
• MyVariant Identifiers: chr15:g.80444999C>A (hg19) ; chr15:g.80152657C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152657C>A , CM000677.2:g.80152657C>A	GRCh38
NC_000015.9:g.80444999C>A , CM000677.1:g.80444999C>A	GRCh37
NC_000015.8:g.78232054C>A	NCBI36
NG_012833.1:g.4659C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+112C>A	ENSP00000453152.1:n.-30+112C>A