Canonical Allele Identifier: CA971893048
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs1181908136
gnomAD v3: 15-80152496-G-A
gnomAD v4: 15-80152496-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152496G>A , CM000677.2:g.80152496G>A GRCh38
NC_000015.9:g.80444838G>A , CM000677.1:g.80444838G>A GRCh37
NC_000015.8:g.78231893G>A NCBI36
NG_012833.1:g.4498G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-79G>A ENSP00000453152.1:n.-79G>A
Search 100 bp 5'
Search 100 bp 3'