Canonical Allele Identifier: CA89778647
Gene: CCDC50 HGNC NCBI

Linked Data

dbSNP Id: rs1052255237
MyVariant Identifiers: chr3:g.191092926A>G (hg19) chr3:g.191375137A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191375137A>G , CM000665.2:g.191375137A>G GRCh38
NC_000003.11:g.191092926A>G , CM000665.1:g.191092926A>G GRCh37
NC_000003.10:g.192575620A>G NCBI36
NG_008994.1:g.51053A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.524A>G MANE Select ENSP00000376249.4:p.Lys175Arg
ENST00000392456.4:c.449-5022A>G ENSP00000376250.4:n.449-5022A>G
ENST00000392455.7:c.449-5022A>G ENSP00000376249.3:n.449-5022A>G
ENST00000392456.3:c.524A>G ENSP00000376250.3:p.Lys175Arg
NM_174908.3:c.449-5022A>G NP_777568.1:n.449-5022A>G
NM_178335.2:c.524A>G NP_848018.1:p.Lys175Arg
XM_011512460.1:c.524A>G XP_011510762.1:p.Lys175Arg
NM_178335.3:c.524A>G MANE Select NP_848018.1:p.Lys175Arg
NM_174908.4:c.449-5022A>G NP_777568.1:n.449-5022A>G
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