Canonical Allele Identifier: CA355764117
Gene: CCDC50 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191375230C>A , CM000665.2:g.191375230C>A GRCh38
NC_000003.11:g.191093019C>A , CM000665.1:g.191093019C>A GRCh37
NC_000003.10:g.192575713C>A NCBI36
NG_008994.1:g.51146C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.617C>A MANE Select ENSP00000376249.4:p.Ser206Tyr
ENST00000392456.4:c.449-4929C>A ENSP00000376250.4:n.449-4929C>A
ENST00000392455.7:c.449-4929C>A ENSP00000376249.3:n.449-4929C>A
ENST00000392456.3:c.617C>A ENSP00000376250.3:p.Ser206Tyr
NM_174908.3:c.449-4929C>A NP_777568.1:n.449-4929C>A
NM_178335.2:c.617C>A NP_848018.1:p.Ser206Tyr
XM_011512460.1:c.617C>A XP_011510762.1:p.Ser206Tyr
NM_178335.3:c.617C>A MANE Select NP_848018.1:p.Ser206Tyr
NM_174908.4:c.449-4929C>A NP_777568.1:n.449-4929C>A