Canonical Allele Identifier: CA437422177

Gene: CCDC50

Linked Data

• dbSNP Id: rs1234655322
• gnomAD v3: 3-191375189-A-G
• gnomAD v4: 3-191375189-A-G
• MyVariant Identifiers: chr3:g.191092978A>G (hg19) ; chr3:g.191375189A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191375189A>G , CM000665.2:g.191375189A>G	GRCh38
NC_000003.11:g.191092978A>G , CM000665.1:g.191092978A>G	GRCh37
NC_000003.10:g.192575672A>G	NCBI36
NG_008994.1:g.51105A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392455.9:c.576A>G MANE Select	ENSP00000376249.4:p.Glu192=
ENST00000392456.4:c.449-4970A>G	ENSP00000376250.4:n.449-4970A>G
ENST00000392455.7:c.449-4970A>G	ENSP00000376249.3:n.449-4970A>G
ENST00000392456.3:c.576A>G	ENSP00000376250.3:p.Glu192=
NM_174908.3:c.449-4970A>G	NP_777568.1:n.449-4970A>G
NM_178335.2:c.576A>G	NP_848018.1:p.Glu192=
XM_011512460.1:c.576A>G	XP_011510762.1:p.Glu192=
NM_178335.3:c.576A>G MANE Select	NP_848018.1:p.Glu192=
NM_174908.4:c.449-4970A>G	NP_777568.1:n.449-4970A>G