Canonical Allele Identifier: CA12038925
Gene: C5orf46 HGNC NCBI

Linked Data

dbSNP Id: rs1007299
gnomAD v2: 5-147234635-T-C
gnomAD v3: 5-147855072-T-C
gnomAD v4: 5-147855072-T-C
MyVariant Identifiers: chr5:g.147234635T>C (hg19) chr5:g.147855072T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.147855072T>C , CM000667.2:g.147855072T>C GRCh38
NC_000005.9:g.147234635T>C , CM000667.1:g.147234635T>C GRCh37
NC_000005.8:g.147214828T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_017009459.1:c.261-4530A>G XP_016864948.1:n.261-4530A>G
Search 100 bp 5'
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