Canonical Allele Identifier: CA619266139

Gene: FAH

Linked Data

• dbSNP Id: rs1314111805
• gnomAD v2: 15-80444916-C-A
• gnomAD v3: 15-80152574-C-A
• gnomAD v4: 15-80152574-C-A
• MyVariant Identifiers: chr15:g.80444916C>A (hg19) ; chr15:g.80152574C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152574C>A , CM000677.2:g.80152574C>A	GRCh38
NC_000015.9:g.80444916C>A , CM000677.1:g.80444916C>A	GRCh37
NC_000015.8:g.78231971C>A	NCBI36
NG_012833.1:g.4576C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+29C>A	ENSP00000453152.1:n.-30+29C>A