Canonical Allele Identifier: CA437422180

Gene: CCDC50

Linked Data

• dbSNP Id: rs1291717143
• gnomAD v4: 3-191375192-G-A
• MyVariant Identifiers: chr3:g.191092981G>A (hg19) ; chr3:g.191375192G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191375192G>A , CM000665.2:g.191375192G>A	GRCh38
NC_000003.11:g.191092981G>A , CM000665.1:g.191092981G>A	GRCh37
NC_000003.10:g.192575675G>A	NCBI36
NG_008994.1:g.51108G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392455.9:c.579G>A MANE Select	ENSP00000376249.4:p.Glu193=
ENST00000392456.4:c.449-4967G>A	ENSP00000376250.4:n.449-4967G>A
ENST00000392455.7:c.449-4967G>A	ENSP00000376249.3:n.449-4967G>A
ENST00000392456.3:c.579G>A	ENSP00000376250.3:p.Glu193=
NM_174908.3:c.449-4967G>A	NP_777568.1:n.449-4967G>A
NM_178335.2:c.579G>A	NP_848018.1:p.Glu193=
XM_011512460.1:c.579G>A	XP_011510762.1:p.Glu193=
NM_178335.3:c.579G>A MANE Select	NP_848018.1:p.Glu193=
NM_174908.4:c.449-4967G>A	NP_777568.1:n.449-4967G>A