Canonical Allele Identifier: CA355760597
Gene: CCDC50 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.191074880G>A (hg19) chr3:g.191357091G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191357091G>A , CM000665.2:g.191357091G>A GRCh38
NC_000003.11:g.191074880G>A , CM000665.1:g.191074880G>A GRCh37
NC_000003.10:g.192557574G>A NCBI36
NG_008994.1:g.33007G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.53G>A MANE Select ENSP00000376249.4:p.Cys18Tyr
ENST00000392456.4:c.53G>A ENSP00000376250.4:p.Cys18Tyr
ENST00000392455.7:c.53G>A ENSP00000376249.3:p.Cys18Tyr
ENST00000392456.3:c.53G>A ENSP00000376250.3:p.Cys18Tyr
NM_174908.3:c.53G>A NP_777568.1:p.Cys18Tyr
NM_178335.2:c.53G>A NP_848018.1:p.Cys18Tyr
XM_011512460.1:c.53G>A XP_011510762.1:p.Cys18Tyr
NM_178335.3:c.53G>A MANE Select NP_848018.1:p.Cys18Tyr
NM_174908.4:c.53G>A NP_777568.1:p.Cys18Tyr
Search 100 bp 5'
Search 100 bp 3'