Canonical Allele Identifier: CA971894093
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs2041059304
gnomAD v3: 15-80152696-C-T
gnomAD v4: 15-80152696-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152696C>T , CM000677.2:g.80152696C>T GRCh38
NC_000015.9:g.80445038C>T , CM000677.1:g.80445038C>T GRCh37
NC_000015.8:g.78232093C>T NCBI36
NG_012833.1:g.4698C>T

Transcript Alleles

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