Canonical Allele Identifier: CA971892957
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs2041053960
gnomAD v3: 15-80152489-CAGGGGAGGGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCG-C
gnomAD v4: 15-80152489-CAGGGGAGGGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152508_80152657del , CM000677.2:g.80152508_80152657del GRCh38
NC_000015.9:g.80444850_80444999del , CM000677.1:g.80444850_80444999del GRCh37
NC_000015.8:g.78231905_78232054del NCBI36
NG_012833.1:g.4510_4659del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-67_-30+112del
Search 100 bp 5'
Search 100 bp 3'