Canonical Allele Identifier: CA129692968

Gene: C5orf46

Linked Data

• dbSNP Id: rs940208538
• gnomAD v3: 5-147854939-G-A
• gnomAD v4: 5-147854939-G-A
• MyVariant Identifiers: chr5:g.147234502G>A (hg19) ; chr5:g.147854939G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.147854939G>A , CM000667.2:g.147854939G>A	GRCh38
NC_000005.9:g.147234502G>A , CM000667.1:g.147234502G>A	GRCh37
NC_000005.8:g.147214695G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_017009459.1:c.261-4397C>T	XP_016864948.1:n.261-4397C>T