Canonical Allele Identifier: CA355760720
Gene: CCDC50 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191357140G>C , CM000665.2:g.191357140G>C GRCh38
NC_000003.11:g.191074929G>C , CM000665.1:g.191074929G>C GRCh37
NC_000003.10:g.192557623G>C NCBI36
NG_008994.1:g.33056G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.102G>C MANE Select ENSP00000376249.4:p.Gln34His
ENST00000392456.4:c.102G>C ENSP00000376250.4:p.Gln34His
ENST00000392455.7:c.102G>C ENSP00000376249.3:p.Gln34His
ENST00000392456.3:c.102G>C ENSP00000376250.3:p.Gln34His
NM_174908.3:c.102G>C NP_777568.1:p.Gln34His
NM_178335.2:c.102G>C NP_848018.1:p.Gln34His
XM_011512460.1:c.102G>C XP_011510762.1:p.Gln34His
NM_178335.3:c.102G>C MANE Select NP_848018.1:p.Gln34His
NM_174908.4:c.102G>C NP_777568.1:p.Gln34His