Canonical Allele Identifier: CA2755288

Gene: CCDC50

Linked Data

• dbSNP Id: rs779067352
• ExAC: 3:191093002 G / A
• gnomAD v2: 3-191093002-G-A
• gnomAD v4: 3-191375213-G-A
• MyVariant Identifiers: chr3:g.191093002G>A (hg19) ; chr3:g.191375213G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191375213G>A , CM000665.2:g.191375213G>A	GRCh38
NC_000003.11:g.191093002G>A , CM000665.1:g.191093002G>A	GRCh37
NC_000003.10:g.192575696G>A	NCBI36
NG_008994.1:g.51129G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392455.9:c.600G>A MANE Select	ENSP00000376249.4:p.Ser200=
ENST00000392456.4:c.449-4946G>A	ENSP00000376250.4:n.449-4946G>A
ENST00000392455.7:c.449-4946G>A	ENSP00000376249.3:n.449-4946G>A
ENST00000392456.3:c.600G>A	ENSP00000376250.3:p.Ser200=
NM_174908.3:c.449-4946G>A	NP_777568.1:n.449-4946G>A
NM_178335.2:c.600G>A	NP_848018.1:p.Ser200=
XM_011512460.1:c.600G>A	XP_011510762.1:p.Ser200=
NM_178335.3:c.600G>A MANE Select	NP_848018.1:p.Ser200=
NM_174908.4:c.449-4946G>A	NP_777568.1:n.449-4946G>A