Canonical Allele Identifier: CA1429201466

Gene: CCDC50

Linked Data

• dbSNP Id: rs1712306513
• gnomAD v4: 3-191356987-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191356987A>G , CM000665.2:g.191356987A>G	GRCh38
NC_000003.11:g.191074776A>G , CM000665.1:g.191074776A>G	GRCh37
NC_000003.10:g.192557470A>G	NCBI36
NG_008994.1:g.32903A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392455.9:c.50-101A>G MANE Select	ENSP00000376249.4:n.50-101A>G
ENST00000392456.4:c.50-101A>G	ENSP00000376250.4:n.50-101A>G
ENST00000392455.7:c.50-101A>G	ENSP00000376249.3:n.50-101A>G
ENST00000392456.3:c.50-101A>G	ENSP00000376250.3:n.50-101A>G
NM_174908.3:c.50-101A>G	NP_777568.1:n.50-101A>G
NM_178335.2:c.50-101A>G	NP_848018.1:n.50-101A>G
XM_011512460.1:c.50-101A>G	XP_011510762.1:n.50-101A>G
NM_178335.3:c.50-101A>G MANE Select	NP_848018.1:n.50-101A>G
NM_174908.4:c.50-101A>G	NP_777568.1:n.50-101A>G