Canonical Allele Identifier: CA1429201897

Gene: CCDC50

Linked Data

• dbSNP Id: rs964423458
• gnomAD v4: 3-191357230-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191357230T>G , CM000665.2:g.191357230T>G	GRCh38
NC_000003.11:g.191075019T>G , CM000665.1:g.191075019T>G	GRCh37
NC_000003.10:g.192557713T>G	NCBI36
NG_008994.1:g.33146T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392455.9:c.112+80T>G MANE Select	ENSP00000376249.4:n.112+80T>G
ENST00000392456.4:c.112+80T>G	ENSP00000376250.4:n.112+80T>G
ENST00000392455.7:c.112+80T>G	ENSP00000376249.3:n.112+80T>G
ENST00000392456.3:c.112+80T>G	ENSP00000376250.3:n.112+80T>G
NM_174908.3:c.112+80T>G	NP_777568.1:n.112+80T>G
NM_178335.2:c.112+80T>G	NP_848018.1:n.112+80T>G
XM_011512460.1:c.112+80T>G	XP_011510762.1:n.112+80T>G
NM_178335.3:c.112+80T>G MANE Select	NP_848018.1:n.112+80T>G
NM_174908.4:c.112+80T>G	NP_777568.1:n.112+80T>G