Canonical Allele Identifier: CA129692959
Gene: C5orf46 HGNC NCBI

Linked Data

dbSNP Id: rs543413709
gnomAD v2: 5-147234370-C-T
gnomAD v3: 5-147854807-C-T
gnomAD v4: 5-147854807-C-T
MyVariant Identifiers: chr5:g.147234370C>T (hg19) chr5:g.147854807C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.147854807C>T , CM000667.2:g.147854807C>T GRCh38
NC_000005.9:g.147234370C>T , CM000667.1:g.147234370C>T GRCh37
NC_000005.8:g.147214563C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_017009459.1:c.261-4265G>A XP_016864948.1:n.261-4265G>A
Search 100 bp 5'
Search 100 bp 3'