Canonical Allele Identifier: CA619266154
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs578103336
gnomAD v2: 15-80444999-C-G
gnomAD v3: 15-80152657-C-G
gnomAD v4: 15-80152657-C-G
MyVariant Identifiers: chr15:g.80444999C>G (hg19) chr15:g.80152657C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152657C>G , CM000677.2:g.80152657C>G GRCh38
NC_000015.9:g.80444999C>G , CM000677.1:g.80444999C>G GRCh37
NC_000015.8:g.78232054C>G NCBI36
NG_012833.1:g.4659C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+112C>G ENSP00000453152.1:n.-30+112C>G
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