Canonical Allele Identifier: CA716102496

Gene: FAH

Linked Data

• dbSNP Id: rs1309887072
• gnomAD v4: 15-80152744-T-A
• MyVariant Identifiers: chr15:g.80445086T>A (hg19) ; chr15:g.80152744T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152744T>A , CM000677.2:g.80152744T>A	GRCh38
NC_000015.9:g.80445086T>A , CM000677.1:g.80445086T>A	GRCh37
NC_000015.8:g.78232141T>A	NCBI36
NG_012833.1:g.4746T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+199T>A	ENSP00000453152.1:n.-30+199T>A