Canonical Allele Identifier: CA716102385
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs1018307119
gnomAD v3: 15-80152587-A-C
gnomAD v4: 15-80152587-A-C
MyVariant Identifiers: chr15:g.80444929A>C (hg19) chr15:g.80152587A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152587A>C , CM000677.2:g.80152587A>C GRCh38
NC_000015.9:g.80444929A>C , CM000677.1:g.80444929A>C GRCh37
NC_000015.8:g.78231984A>C NCBI36
NG_012833.1:g.4589A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+42A>C ENSP00000453152.1:n.-30+42A>C
Search 100 bp 5'
Search 100 bp 3'