Canonical Allele Identifier: CA355763753
Gene: CCDC50 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.191092915A>C (hg19) chr3:g.191375126A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191375126A>C , CM000665.2:g.191375126A>C GRCh38
NC_000003.11:g.191092915A>C , CM000665.1:g.191092915A>C GRCh37
NC_000003.10:g.192575609A>C NCBI36
NG_008994.1:g.51042A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.513A>C MANE Select ENSP00000376249.4:p.Gln171His
ENST00000392456.4:c.449-5033A>C ENSP00000376250.4:n.449-5033A>C
ENST00000392455.7:c.449-5033A>C ENSP00000376249.3:n.449-5033A>C
ENST00000392456.3:c.513A>C ENSP00000376250.3:p.Gln171His
NM_174908.3:c.449-5033A>C NP_777568.1:n.449-5033A>C
NM_178335.2:c.513A>C NP_848018.1:p.Gln171His
XM_011512460.1:c.513A>C XP_011510762.1:p.Gln171His
NM_178335.3:c.513A>C MANE Select NP_848018.1:p.Gln171His
NM_174908.4:c.449-5033A>C NP_777568.1:n.449-5033A>C
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