Canonical Allele Identifier: CA716102363

Gene: FAH

Linked Data

• dbSNP Id: rs1226253320
• gnomAD v4: 15-80152534-T-C
• MyVariant Identifiers: chr15:g.80444876T>C (hg19) ; chr15:g.80152534T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152534T>C , CM000677.2:g.80152534T>C	GRCh38
NC_000015.9:g.80444876T>C , CM000677.1:g.80444876T>C	GRCh37
NC_000015.8:g.78231931T>C	NCBI36
NG_012833.1:g.4536T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-41T>C	ENSP00000453152.1:n.-41T>C