Canonical Allele Identifier: CA437420632
Gene: CCDC50 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.191074920C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191357131C>T , CM000665.2:g.191357131C>T GRCh38
NC_000003.11:g.191074920C>T , CM000665.1:g.191074920C>T GRCh37
NC_000003.10:g.192557614C>T NCBI36
NG_008994.1:g.33047C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.93C>T MANE Select ENSP00000376249.4:p.His31=
ENST00000392456.4:c.93C>T ENSP00000376250.4:p.His31=
ENST00000392455.7:c.93C>T ENSP00000376249.3:p.His31=
ENST00000392456.3:c.93C>T ENSP00000376250.3:p.His31=
NM_174908.3:c.93C>T NP_777568.1:p.His31=
NM_178335.2:c.93C>T NP_848018.1:p.His31=
XM_011512460.1:c.93C>T XP_011510762.1:p.His31=
NM_178335.3:c.93C>T MANE Select NP_848018.1:p.His31=
NM_174908.4:c.93C>T NP_777568.1:p.His31=