Canonical Allele Identifier: CA904357471

Gene: CCDC50

Linked Data

• dbSNP Id: rs1418221591
• gnomAD v4: 3-191357283-C-G
• MyVariant Identifiers: chr3:g.191075072C>G (hg19) ; chr3:g.191357283C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191357283C>G , CM000665.2:g.191357283C>G	GRCh38
NC_000003.11:g.191075072C>G , CM000665.1:g.191075072C>G	GRCh37
NC_000003.10:g.192557766C>G	NCBI36
NG_008994.1:g.33199C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392455.9:c.112+133C>G MANE Select	ENSP00000376249.4:n.112+133C>G
ENST00000392456.4:c.112+133C>G	ENSP00000376250.4:n.112+133C>G
ENST00000392455.7:c.112+133C>G	ENSP00000376249.3:n.112+133C>G
ENST00000392456.3:c.112+133C>G	ENSP00000376250.3:n.112+133C>G
NM_174908.3:c.112+133C>G	NP_777568.1:n.112+133C>G
NM_178335.2:c.112+133C>G	NP_848018.1:n.112+133C>G
XM_011512460.1:c.112+133C>G	XP_011510762.1:n.112+133C>G
NM_178335.3:c.112+133C>G MANE Select	NP_848018.1:n.112+133C>G
NM_174908.4:c.112+133C>G	NP_777568.1:n.112+133C>G