Canonical Allele Identifier: CA971893685
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs1595888286
gnomAD v3: 15-80152633-C-A
gnomAD v4: 15-80152633-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152633C>A , CM000677.2:g.80152633C>A GRCh38
NC_000015.9:g.80444975C>A , CM000677.1:g.80444975C>A GRCh37
NC_000015.8:g.78232030C>A NCBI36
NG_012833.1:g.4635C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+88C>A ENSP00000453152.1:n.-30+88C>A
Search 100 bp 5'
Search 100 bp 3'