Canonical Allele Identifier: CA129693003
Gene: C5orf46 HGNC NCBI

Linked Data

dbSNP Id: rs751330798
gnomAD v3: 5-147855192-C-T
gnomAD v4: 5-147855192-C-T
MyVariant Identifiers: chr5:g.147234755C>T (hg19) chr5:g.147855192C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.147855192C>T , CM000667.2:g.147855192C>T GRCh38
NC_000005.9:g.147234755C>T , CM000667.1:g.147234755C>T GRCh37
NC_000005.8:g.147214948C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_017009459.1:c.261-4650G>A XP_016864948.1:n.261-4650G>A
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