Canonical Allele Identifier: CA971894188
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs1595888363
gnomAD v3: 15-80152740-A-G
gnomAD v4: 15-80152740-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152740A>G , CM000677.2:g.80152740A>G GRCh38
NC_000015.9:g.80445082A>G , CM000677.1:g.80445082A>G GRCh37
NC_000015.8:g.78232137A>G NCBI36
NG_012833.1:g.4742A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+195A>G ENSP00000453152.1:n.-30+195A>G
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