Canonical Allele Identifier: CA355764459
Gene: CCDC50 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.191093179C>A (hg19) chr3:g.191375390C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191375390C>A , CM000665.2:g.191375390C>A GRCh38
NC_000003.11:g.191093179C>A , CM000665.1:g.191093179C>A GRCh37
NC_000003.10:g.192575873C>A NCBI36
NG_008994.1:g.51306C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.777C>A MANE Select ENSP00000376249.4:p.Asn259Lys
ENST00000392456.4:c.449-4769C>A ENSP00000376250.4:n.449-4769C>A
ENST00000392455.7:c.449-4769C>A ENSP00000376249.3:n.449-4769C>A
ENST00000392456.3:c.777C>A ENSP00000376250.3:p.Asn259Lys
NM_174908.3:c.449-4769C>A NP_777568.1:n.449-4769C>A
NM_178335.2:c.777C>A NP_848018.1:p.Asn259Lys
XM_011512460.1:c.777C>A XP_011510762.1:p.Asn259Lys
NM_178335.3:c.777C>A MANE Select NP_848018.1:p.Asn259Lys
NM_174908.4:c.449-4769C>A NP_777568.1:n.449-4769C>A
Search 100 bp 5'
Search 100 bp 3'