Canonical Allele Identifier: CA2755144

Gene: CCDC50

Linked Data

• dbSNP Id: rs760269709
• ExAC: 3:191074934 A / G
• gnomAD v2: 3-191074934-A-G
• MyVariant Identifiers: chr3:g.191074934A>G (hg19) ; chr3:g.191074934_191074938delinsGAGAG (hg19) ; chr3:g.191357145A>G (hg38) ; chr3:g.191357145_191357149delinsGAGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191357145A>G , CM000665.2:g.191357145A>G	GRCh38
NC_000003.11:g.191074934A>G , CM000665.1:g.191074934A>G	GRCh37
NC_000003.10:g.192557628A>G	NCBI36
NG_008994.1:g.33061A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392455.9:c.107A>G MANE Select	ENSP00000376249.4:p.Gln36Arg
ENST00000392456.4:c.107A>G	ENSP00000376250.4:p.Gln36Arg
ENST00000392455.7:c.107A>G	ENSP00000376249.3:p.Gln36Arg
ENST00000392456.3:c.107A>G	ENSP00000376250.3:p.Gln36Arg
NM_174908.3:c.107A>G	NP_777568.1:p.Gln36Arg
NM_178335.2:c.107A>G	NP_848018.1:p.Gln36Arg
XM_011512460.1:c.107A>G	XP_011510762.1:p.Gln36Arg
NM_178335.3:c.107A>G MANE Select	NP_848018.1:p.Gln36Arg
NM_174908.4:c.107A>G	NP_777568.1:p.Gln36Arg