Canonical Allele Identifier: CA2190326572
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs1167381066
gnomAD v4: 15-80152507-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152507C>G , CM000677.2:g.80152507C>G GRCh38
NC_000015.9:g.80444849C>G , CM000677.1:g.80444849C>G GRCh37
NC_000015.8:g.78231904C>G NCBI36
NG_012833.1:g.4509C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-68C>G ENSP00000453152.1:n.-68C>G
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