Canonical Allele Identifier: CA716102379

Gene: FAH

Linked Data

• dbSNP Id: rs1381320673
• gnomAD v3: 15-80152562-A-G
• gnomAD v4: 15-80152562-A-G
• MyVariant Identifiers: chr15:g.80444904A>G (hg19) ; chr15:g.80152562A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152562A>G , CM000677.2:g.80152562A>G	GRCh38
NC_000015.9:g.80444904A>G , CM000677.1:g.80444904A>G	GRCh37
NC_000015.8:g.78231959A>G	NCBI36
NG_012833.1:g.4564A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+17A>G	ENSP00000453152.1:n.-30+17A>G