Canonical Allele Identifier: CA805365285

Gene: C5orf46

Linked Data

• dbSNP Id: rs1274369540
• gnomAD v3: 5-147854810-A-G
• gnomAD v4: 5-147854810-A-G
• MyVariant Identifiers: chr5:g.147234373A>G (hg19) ; chr5:g.147854810A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.147854810A>G , CM000667.2:g.147854810A>G	GRCh38
NC_000005.9:g.147234373A>G , CM000667.1:g.147234373A>G	GRCh37
NC_000005.8:g.147214566A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_017009459.1:c.261-4268T>C	XP_016864948.1:n.261-4268T>C