Canonical Allele Identifier: CA355763596
Gene: CCDC50 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.191092878A>C (hg19) chr3:g.191375089A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191375089A>C , CM000665.2:g.191375089A>C GRCh38
NC_000003.11:g.191092878A>C , CM000665.1:g.191092878A>C GRCh37
NC_000003.10:g.192575572A>C NCBI36
NG_008994.1:g.51005A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.476A>C MANE Select ENSP00000376249.4:p.Glu159Ala
ENST00000392456.4:c.448+5053A>C ENSP00000376250.4:n.448+5053A>C
ENST00000392455.7:c.448+5053A>C ENSP00000376249.3:n.448+5053A>C
ENST00000392456.3:c.476A>C ENSP00000376250.3:p.Glu159Ala
NM_174908.3:c.448+5053A>C NP_777568.1:n.448+5053A>C
NM_178335.2:c.476A>C NP_848018.1:p.Glu159Ala
XM_011512460.1:c.476A>C XP_011510762.1:p.Glu159Ala
NM_178335.3:c.476A>C MANE Select NP_848018.1:p.Glu159Ala
NM_174908.4:c.448+5053A>C NP_777568.1:n.448+5053A>C
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