Canonical Allele Identifier: CA355763569
Gene: CCDC50 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.191092871G>C (hg19) chr3:g.191375082G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191375082G>C , CM000665.2:g.191375082G>C GRCh38
NC_000003.11:g.191092871G>C , CM000665.1:g.191092871G>C GRCh37
NC_000003.10:g.192575565G>C NCBI36
NG_008994.1:g.50998G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.469G>C MANE Select ENSP00000376249.4:p.Ala157Pro
ENST00000392456.4:c.448+5046G>C ENSP00000376250.4:n.448+5046G>C
ENST00000392455.7:c.448+5046G>C ENSP00000376249.3:n.448+5046G>C
ENST00000392456.3:c.469G>C ENSP00000376250.3:p.Ala157Pro
NM_174908.3:c.448+5046G>C NP_777568.1:n.448+5046G>C
NM_178335.2:c.469G>C NP_848018.1:p.Ala157Pro
XM_011512460.1:c.469G>C XP_011510762.1:p.Ala157Pro
NM_178335.3:c.469G>C MANE Select NP_848018.1:p.Ala157Pro
NM_174908.4:c.448+5046G>C NP_777568.1:n.448+5046G>C
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