Canonical Allele Identifier: CA355760668
Gene: CCDC50 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.191074912C>A (hg19) chr3:g.191357123C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191357123C>A , CM000665.2:g.191357123C>A GRCh38
NC_000003.11:g.191074912C>A , CM000665.1:g.191074912C>A GRCh37
NC_000003.10:g.192557606C>A NCBI36
NG_008994.1:g.33039C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.85C>A MANE Select ENSP00000376249.4:p.Leu29Met
ENST00000392456.4:c.85C>A ENSP00000376250.4:p.Leu29Met
ENST00000392455.7:c.85C>A ENSP00000376249.3:p.Leu29Met
ENST00000392456.3:c.85C>A ENSP00000376250.3:p.Leu29Met
NM_174908.3:c.85C>A NP_777568.1:p.Leu29Met
NM_178335.2:c.85C>A NP_848018.1:p.Leu29Met
XM_011512460.1:c.85C>A XP_011510762.1:p.Leu29Met
NM_178335.3:c.85C>A MANE Select NP_848018.1:p.Leu29Met
NM_174908.4:c.85C>A NP_777568.1:p.Leu29Met
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