Canonical Allele Identifier: CA971893086
Gene: FAH HGNC NCBI

Linked Data

gnomAD v3: 15-80152500-C-T
gnomAD v4: 15-80152500-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152500C>T , CM000677.2:g.80152500C>T GRCh38
NC_000015.9:g.80444842C>T , CM000677.1:g.80444842C>T GRCh37
NC_000015.8:g.78231897C>T NCBI36
NG_012833.1:g.4502C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-75C>T ENSP00000453152.1:n.-75C>T
Search 100 bp 5'
Search 100 bp 3'