Canonical Allele Identifier: CA2669071444

Gene: CCDC50

Linked Data

• gnomAD v4: 3-191356977-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191356977C>A , CM000665.2:g.191356977C>A	GRCh38
NC_000003.11:g.191074766C>A , CM000665.1:g.191074766C>A	GRCh37
NC_000003.10:g.192557460C>A	NCBI36
NG_008994.1:g.32893C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392455.9:c.50-111C>A MANE Select	ENSP00000376249.4:n.50-111C>A
ENST00000392456.4:c.50-111C>A	ENSP00000376250.4:n.50-111C>A
ENST00000392455.7:c.50-111C>A	ENSP00000376249.3:n.50-111C>A
ENST00000392456.3:c.50-111C>A	ENSP00000376250.3:n.50-111C>A
NM_174908.3:c.50-111C>A	NP_777568.1:n.50-111C>A
NM_178335.2:c.50-111C>A	NP_848018.1:n.50-111C>A
XM_011512460.1:c.50-111C>A	XP_011510762.1:n.50-111C>A
NM_178335.3:c.50-111C>A MANE Select	NP_848018.1:n.50-111C>A
NM_174908.4:c.50-111C>A	NP_777568.1:n.50-111C>A