Canonical Allele Identifier: CA2596753497
Gene: FAH HGNC NCBI

Linked Data

gnomAD v3: 15-80152698-G-T
gnomAD v4: 15-80152698-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152698G>T , CM000677.2:g.80152698G>T GRCh38
NC_000015.9:g.80445040G>T , CM000677.1:g.80445040G>T GRCh37
NC_000015.8:g.78232095G>T NCBI36
NG_012833.1:g.4700G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+153G>T ENSP00000453152.1:n.-30+153G>T
Search 100 bp 5'
Search 100 bp 3'