Canonical Allele Identifier: CA716102472

Gene: FAH

Linked Data

• dbSNP Id: rs1387698848
• gnomAD v4: 15-80152703-G-T
• MyVariant Identifiers: chr15:g.80445045G>T (hg19) ; chr15:g.80152703G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152703G>T , CM000677.2:g.80152703G>T	GRCh38
NC_000015.9:g.80445045G>T , CM000677.1:g.80445045G>T	GRCh37
NC_000015.8:g.78232100G>T	NCBI36
NG_012833.1:g.4705G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+158G>T	ENSP00000453152.1:n.-30+158G>T