Canonical Allele Identifier: CA563726119

Gene: C5orf46

Linked Data

• dbSNP Id: rs1432984
• gnomAD v2: 5-147234504-T-A
• gnomAD v3: 5-147854941-T-A
• gnomAD v4: 5-147854941-T-A
• MyVariant Identifiers: chr5:g.147234504T>A (hg19) ; chr5:g.147854941T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.147854941T>A , CM000667.2:g.147854941T>A	GRCh38
NC_000005.9:g.147234504T>A , CM000667.1:g.147234504T>A	GRCh37
NC_000005.8:g.147214697T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_017009459.1:c.261-4399A>T	XP_016864948.1:n.261-4399A>T