Canonical Allele Identifier: CA274010650
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs868712158
gnomAD v2: 15-80444923-G-A
gnomAD v3: 15-80152581-G-A
gnomAD v4: 15-80152581-G-A
MyVariant Identifiers: chr15:g.80444923G>A (hg19) chr15:g.80152581G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152581G>A , CM000677.2:g.80152581G>A GRCh38
NC_000015.9:g.80444923G>A , CM000677.1:g.80444923G>A GRCh37
NC_000015.8:g.78231978G>A NCBI36
NG_012833.1:g.4583G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+36G>A ENSP00000453152.1:n.-30+36G>A
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