Canonical Allele Identifier: CA716102468
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs1365062993
gnomAD v4: 15-80152686-C-G
MyVariant Identifiers: chr15:g.80445028C>G (hg19) chr15:g.80152686C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152686C>G , CM000677.2:g.80152686C>G GRCh38
NC_000015.9:g.80445028C>G , CM000677.1:g.80445028C>G GRCh37
NC_000015.8:g.78232083C>G NCBI36
NG_012833.1:g.4688C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+141C>G ENSP00000453152.1:n.-30+141C>G
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