Canonical Allele Identifier: CA2755270
Gene: CCDC50 HGNC NCBI

Linked Data

dbSNP Id: rs775923259
ExAC: 3:191092889 G / A
gnomAD v2: 3-191092889-G-A
gnomAD v3: 3-191375100-G-A
gnomAD v4: 3-191375100-G-A
MyVariant Identifiers: chr3:g.191092889G>A (hg19) chr3:g.191375100G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191375100G>A , CM000665.2:g.191375100G>A GRCh38
NC_000003.11:g.191092889G>A , CM000665.1:g.191092889G>A GRCh37
NC_000003.10:g.192575583G>A NCBI36
NG_008994.1:g.51016G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.487G>A MANE Select ENSP00000376249.4:p.Gly163Arg
ENST00000392456.4:c.449-5059G>A ENSP00000376250.4:n.449-5059G>A
ENST00000392455.7:c.449-5059G>A ENSP00000376249.3:n.449-5059G>A
ENST00000392456.3:c.487G>A ENSP00000376250.3:p.Gly163Arg
NM_174908.3:c.449-5059G>A NP_777568.1:n.449-5059G>A
NM_178335.2:c.487G>A NP_848018.1:p.Gly163Arg
XM_011512460.1:c.487G>A XP_011510762.1:p.Gly163Arg
NM_178335.3:c.487G>A MANE Select NP_848018.1:p.Gly163Arg
NM_174908.4:c.449-5059G>A NP_777568.1:n.449-5059G>A
Search 100 bp 5'
Search 100 bp 3'