Canonical Allele Identifier: CA2755287
Gene: CCDC50 HGNC NCBI

Linked Data

ClinVar Variation Id: 674311
dbSNP Id: rs146653620

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191375212C>T , CM000665.2:g.191375212C>T GRCh38
NC_000003.11:g.191093001C>T , CM000665.1:g.191093001C>T GRCh37
NC_000003.10:g.192575695C>T NCBI36
NG_008994.1:g.51128C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.599C>T MANE Select ENSP00000376249.4:p.Ser200Leu
ENST00000392456.4:c.449-4947C>T ENSP00000376250.4:n.449-4947C>T
ENST00000392455.7:c.449-4947C>T ENSP00000376249.3:n.449-4947C>T
ENST00000392456.3:c.599C>T ENSP00000376250.3:p.Ser200Leu
NM_174908.3:c.449-4947C>T NP_777568.1:n.449-4947C>T
NM_178335.2:c.599C>T NP_848018.1:p.Ser200Leu
XM_011512460.1:c.599C>T XP_011510762.1:p.Ser200Leu
NM_178335.3:c.599C>T MANE Select NP_848018.1:p.Ser200Leu
NM_174908.4:c.449-4947C>T NP_777568.1:n.449-4947C>T