Canonical Allele Identifier: CA971893020
Gene: FAH HGNC NCBI

Linked Data

gnomAD v3: 15-80152494-G-C
gnomAD v4: 15-80152494-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152494G>C , CM000677.2:g.80152494G>C GRCh38
NC_000015.9:g.80444836G>C , CM000677.1:g.80444836G>C GRCh37
NC_000015.8:g.78231891G>C NCBI36
NG_012833.1:g.4496G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-81G>C ENSP00000453152.1:n.-81G>C
Search 100 bp 5'
Search 100 bp 3'