Canonical Allele Identifier: CA355763625
Gene: CCDC50 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.191092884G>C (hg19) chr3:g.191375095G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191375095G>C , CM000665.2:g.191375095G>C GRCh38
NC_000003.11:g.191092884G>C , CM000665.1:g.191092884G>C GRCh37
NC_000003.10:g.192575578G>C NCBI36
NG_008994.1:g.51011G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.482G>C MANE Select ENSP00000376249.4:p.Gly161Ala
ENST00000392456.4:c.448+5059G>C ENSP00000376250.4:n.448+5059G>C
ENST00000392455.7:c.448+5059G>C ENSP00000376249.3:n.448+5059G>C
ENST00000392456.3:c.482G>C ENSP00000376250.3:p.Gly161Ala
NM_174908.3:c.448+5059G>C NP_777568.1:n.448+5059G>C
NM_178335.2:c.482G>C NP_848018.1:p.Gly161Ala
XM_011512460.1:c.482G>C XP_011510762.1:p.Gly161Ala
NM_178335.3:c.482G>C MANE Select NP_848018.1:p.Gly161Ala
NM_174908.4:c.448+5059G>C NP_777568.1:n.448+5059G>C
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