Canonical Allele Identifier: CA355764193
Gene: CCDC50 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191375265A>C , CM000665.2:g.191375265A>C GRCh38
NC_000003.11:g.191093054A>C , CM000665.1:g.191093054A>C GRCh37
NC_000003.10:g.192575748A>C NCBI36
NG_008994.1:g.51181A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.652A>C MANE Select ENSP00000376249.4:p.Ile218Leu
ENST00000392456.4:c.449-4894A>C ENSP00000376250.4:n.449-4894A>C
ENST00000392455.7:c.449-4894A>C ENSP00000376249.3:n.449-4894A>C
ENST00000392456.3:c.652A>C ENSP00000376250.3:p.Ile218Leu
NM_174908.3:c.449-4894A>C NP_777568.1:n.449-4894A>C
NM_178335.2:c.652A>C NP_848018.1:p.Ile218Leu
XM_011512460.1:c.652A>C XP_011510762.1:p.Ile218Leu
NM_178335.3:c.652A>C MANE Select NP_848018.1:p.Ile218Leu
NM_174908.4:c.449-4894A>C NP_777568.1:n.449-4894A>C