Canonical Allele Identifier: CA437420608
Gene: CCDC50 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.191074884A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191357095A>C , CM000665.2:g.191357095A>C GRCh38
NC_000003.11:g.191074884A>C , CM000665.1:g.191074884A>C GRCh37
NC_000003.10:g.192557578A>C NCBI36
NG_008994.1:g.33011A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.57A>C MANE Select ENSP00000376249.4:p.Arg19=
ENST00000392456.4:c.57A>C ENSP00000376250.4:p.Arg19=
ENST00000392455.7:c.57A>C ENSP00000376249.3:p.Arg19=
ENST00000392456.3:c.57A>C ENSP00000376250.3:p.Arg19=
NM_174908.3:c.57A>C NP_777568.1:p.Arg19=
NM_178335.2:c.57A>C NP_848018.1:p.Arg19=
XM_011512460.1:c.57A>C XP_011510762.1:p.Arg19=
NM_178335.3:c.57A>C MANE Select NP_848018.1:p.Arg19=
NM_174908.4:c.57A>C NP_777568.1:p.Arg19=