Canonical Allele Identifier: CA2629872782
Gene: FAH HGNC NCBI

Linked Data

gnomAD v4: 15-80152784-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152784G>T , CM000677.2:g.80152784G>T GRCh38
NC_000015.9:g.80445126G>T , CM000677.1:g.80445126G>T GRCh37
NC_000015.8:g.78232181G>T NCBI36
NG_012833.1:g.4786G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000407106.5:c.-151G>T ENSP00000385080.1:n.-151G>T
ENST00000558022.5:c.-30+239G>T ENSP00000453152.1:n.-30+239G>T
Search 100 bp 5'
Search 100 bp 3'