Canonical Allele Identifier: CA355763583
Gene: CCDC50 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.191092875G>A (hg19) chr3:g.191375086G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191375086G>A , CM000665.2:g.191375086G>A GRCh38
NC_000003.11:g.191092875G>A , CM000665.1:g.191092875G>A GRCh37
NC_000003.10:g.192575569G>A NCBI36
NG_008994.1:g.51002G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.473G>A MANE Select ENSP00000376249.4:p.Arg158Lys
ENST00000392456.4:c.448+5050G>A ENSP00000376250.4:n.448+5050G>A
ENST00000392455.7:c.448+5050G>A ENSP00000376249.3:n.448+5050G>A
ENST00000392456.3:c.473G>A ENSP00000376250.3:p.Arg158Lys
NM_174908.3:c.448+5050G>A NP_777568.1:n.448+5050G>A
NM_178335.2:c.473G>A NP_848018.1:p.Arg158Lys
XM_011512460.1:c.473G>A XP_011510762.1:p.Arg158Lys
NM_178335.3:c.473G>A MANE Select NP_848018.1:p.Arg158Lys
NM_174908.4:c.448+5050G>A NP_777568.1:n.448+5050G>A
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