Canonical Allele Identifier: CA2755139
Gene: CCDC50 HGNC NCBI

Linked Data

dbSNP Id: rs771362652

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191357094G>A , CM000665.2:g.191357094G>A GRCh38
NC_000003.11:g.191074883G>A , CM000665.1:g.191074883G>A GRCh37
NC_000003.10:g.192557577G>A NCBI36
NG_008994.1:g.33010G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.56G>A MANE Select ENSP00000376249.4:p.Arg19Gln
ENST00000392456.4:c.56G>A ENSP00000376250.4:p.Arg19Gln
ENST00000392455.7:c.56G>A ENSP00000376249.3:p.Arg19Gln
ENST00000392456.3:c.56G>A ENSP00000376250.3:p.Arg19Gln
NM_174908.3:c.56G>A NP_777568.1:p.Arg19Gln
NM_178335.2:c.56G>A NP_848018.1:p.Arg19Gln
XM_011512460.1:c.56G>A XP_011510762.1:p.Arg19Gln
NM_178335.3:c.56G>A MANE Select NP_848018.1:p.Arg19Gln
NM_174908.4:c.56G>A NP_777568.1:p.Arg19Gln