Canonical Allele Identifier: CA716102367
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs943363797
gnomAD v3: 15-80152543-C-T
gnomAD v4: 15-80152543-C-T
MyVariant Identifiers: chr15:g.80444885C>T (hg19) chr15:g.80152543C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152543C>T , CM000677.2:g.80152543C>T GRCh38
NC_000015.9:g.80444885C>T , CM000677.1:g.80444885C>T GRCh37
NC_000015.8:g.78231940C>T NCBI36
NG_012833.1:g.4545C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-32C>T ENSP00000453152.1:n.-32C>T
Search 100 bp 5'
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