Canonical Allele Identifier: CA355764680
Gene: CCDC50 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191375466C>A , CM000665.2:g.191375466C>A GRCh38
NC_000003.11:g.191093255C>A , CM000665.1:g.191093255C>A GRCh37
NC_000003.10:g.192575949C>A NCBI36
NG_008994.1:g.51382C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.853C>A MANE Select ENSP00000376249.4:p.Leu285Ile
ENST00000392456.4:c.449-4693C>A ENSP00000376250.4:n.449-4693C>A
ENST00000392455.7:c.449-4693C>A ENSP00000376249.3:n.449-4693C>A
ENST00000392456.3:c.853C>A ENSP00000376250.3:p.Leu285Ile
NM_174908.3:c.449-4693C>A NP_777568.1:n.449-4693C>A
NM_178335.2:c.853C>A NP_848018.1:p.Leu285Ile
XM_011512460.1:c.853C>A XP_011510762.1:p.Leu285Ile
NM_178335.3:c.853C>A MANE Select NP_848018.1:p.Leu285Ile
NM_174908.4:c.449-4693C>A NP_777568.1:n.449-4693C>A