Canonical Allele Identifier: CA129692979

Gene: C5orf46

Linked Data

• dbSNP Id: rs867148625
• gnomAD v2: 5-147234603-C-T
• gnomAD v3: 5-147855040-C-T
• gnomAD v4: 5-147855040-C-T
• MyVariant Identifiers: chr5:g.147234603C>T (hg19) ; chr5:g.147855040C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.147855040C>T , CM000667.2:g.147855040C>T	GRCh38
NC_000005.9:g.147234603C>T , CM000667.1:g.147234603C>T	GRCh37
NC_000005.8:g.147214796C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_017009459.1:c.261-4498G>A	XP_016864948.1:n.261-4498G>A