Canonical Allele Identifier: CA355764146
Gene: CCDC50 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191375245A>G , CM000665.2:g.191375245A>G GRCh38
NC_000003.11:g.191093034A>G , CM000665.1:g.191093034A>G GRCh37
NC_000003.10:g.192575728A>G NCBI36
NG_008994.1:g.51161A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.632A>G MANE Select ENSP00000376249.4:p.Lys211Arg
ENST00000392456.4:c.449-4914A>G ENSP00000376250.4:n.449-4914A>G
ENST00000392455.7:c.449-4914A>G ENSP00000376249.3:n.449-4914A>G
ENST00000392456.3:c.632A>G ENSP00000376250.3:p.Lys211Arg
NM_174908.3:c.449-4914A>G NP_777568.1:n.449-4914A>G
NM_178335.2:c.632A>G NP_848018.1:p.Lys211Arg
XM_011512460.1:c.632A>G XP_011510762.1:p.Lys211Arg
NM_178335.3:c.632A>G MANE Select NP_848018.1:p.Lys211Arg
NM_174908.4:c.449-4914A>G NP_777568.1:n.449-4914A>G