Canonical Allele Identifier: CA563726132
Gene: C5orf46 HGNC NCBI

Linked Data

dbSNP Id: rs930440823
gnomAD v2: 5-147234672-C-A
gnomAD v3: 5-147855109-C-A
gnomAD v4: 5-147855109-C-A
MyVariant Identifiers: chr5:g.147234672C>A (hg19) chr5:g.147855109C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.147855109C>A , CM000667.2:g.147855109C>A GRCh38
NC_000005.9:g.147234672C>A , CM000667.1:g.147234672C>A GRCh37
NC_000005.8:g.147214865C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_017009459.1:c.261-4567G>T XP_016864948.1:n.261-4567G>T
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