Canonical Allele Identifier: CA355763793
Gene: CCDC50 HGNC NCBI

Linked Data

ClinVar Variation Id: 1313640
ClinVar RCV Id: RCV001764004
dbSNP Id: rs1404575659
gnomAD v2: 3-191092922-G-A
gnomAD v4: 3-191375133-G-A
MyVariant Identifiers: chr3:g.191092922G>A (hg19) chr3:g.191375133G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191375133G>A , CM000665.2:g.191375133G>A GRCh38
NC_000003.11:g.191092922G>A , CM000665.1:g.191092922G>A GRCh37
NC_000003.10:g.192575616G>A NCBI36
NG_008994.1:g.51049G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.520G>A MANE Select ENSP00000376249.4:p.Gly174Arg
ENST00000392456.4:c.449-5026G>A ENSP00000376250.4:n.449-5026G>A
ENST00000392455.7:c.449-5026G>A ENSP00000376249.3:n.449-5026G>A
ENST00000392456.3:c.520G>A ENSP00000376250.3:p.Gly174Arg
NM_174908.3:c.449-5026G>A NP_777568.1:n.449-5026G>A
NM_178335.2:c.520G>A NP_848018.1:p.Gly174Arg
XM_011512460.1:c.520G>A XP_011510762.1:p.Gly174Arg
NM_178335.3:c.520G>A MANE Select NP_848018.1:p.Gly174Arg
NM_174908.4:c.449-5026G>A NP_777568.1:n.449-5026G>A
Search 100 bp 5'
Search 100 bp 3'