Canonical Allele Identifier: CA716102543

Gene: FAH

Linked Data

• dbSNP Id: rs936593650
• gnomAD v3: 15-80152780-C-A
• gnomAD v4: 15-80152780-C-A
• MyVariant Identifiers: chr15:g.80445122C>A (hg19) ; chr15:g.80152780C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152780C>A , CM000677.2:g.80152780C>A	GRCh38
NC_000015.9:g.80445122C>A , CM000677.1:g.80445122C>A	GRCh37
NC_000015.8:g.78232177C>A	NCBI36
NG_012833.1:g.4782C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407106.5:c.-155C>A	ENSP00000385080.1:n.-155C>A
ENST00000558022.5:c.-30+235C>A	ENSP00000453152.1:n.-30+235C>A