Canonical Allele Identifier: CA355764141
Gene: CCDC50 HGNC NCBI

Linked Data

ClinVar Variation Id: 3139181
ClinVar RCV Id: RCV004427525
dbSNP Id: rs1713056511
MyVariant Identifiers: chr3:g.191093031G>T (hg19) chr3:g.191375242G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191375242G>T , CM000665.2:g.191375242G>T GRCh38
NC_000003.11:g.191093031G>T , CM000665.1:g.191093031G>T GRCh37
NC_000003.10:g.192575725G>T NCBI36
NG_008994.1:g.51158G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.629G>T MANE Select ENSP00000376249.4:p.Gly210Val
ENST00000392456.4:c.449-4917G>T ENSP00000376250.4:n.449-4917G>T
ENST00000392455.7:c.449-4917G>T ENSP00000376249.3:n.449-4917G>T
ENST00000392456.3:c.629G>T ENSP00000376250.3:p.Gly210Val
NM_174908.3:c.449-4917G>T NP_777568.1:n.449-4917G>T
NM_178335.2:c.629G>T NP_848018.1:p.Gly210Val
XM_011512460.1:c.629G>T XP_011510762.1:p.Gly210Val
NM_178335.3:c.629G>T MANE Select NP_848018.1:p.Gly210Val
NM_174908.4:c.449-4917G>T NP_777568.1:n.449-4917G>T
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