Canonical Allele Identifier: CA129692960

Gene: C5orf46

Linked Data

• dbSNP Id: rs774707006
• gnomAD v2: 5-147234378-T-C
• gnomAD v3: 5-147854815-T-C
• gnomAD v4: 5-147854815-T-C
• MyVariant Identifiers: chr5:g.147234378T>C (hg19) ; chr5:g.147854815T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.147854815T>C , CM000667.2:g.147854815T>C	GRCh38
NC_000005.9:g.147234378T>C , CM000667.1:g.147234378T>C	GRCh37
NC_000005.8:g.147214571T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_017009459.1:c.261-4273A>G	XP_016864948.1:n.261-4273A>G