Canonical Allele Identifier: CA355763835
Gene: CCDC50 HGNC NCBI

Linked Data

dbSNP Id: rs1380782225
gnomAD v2: 3-191092931-G-A
gnomAD v3: 3-191375142-G-A
gnomAD v4: 3-191375142-G-A
MyVariant Identifiers: chr3:g.191092931G>A (hg19) chr3:g.191375142G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191375142G>A , CM000665.2:g.191375142G>A GRCh38
NC_000003.11:g.191092931G>A , CM000665.1:g.191092931G>A GRCh37
NC_000003.10:g.192575625G>A NCBI36
NG_008994.1:g.51058G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.529G>A MANE Select ENSP00000376249.4:p.Val177Met
ENST00000392456.4:c.449-5017G>A ENSP00000376250.4:n.449-5017G>A
ENST00000392455.7:c.449-5017G>A ENSP00000376249.3:n.449-5017G>A
ENST00000392456.3:c.529G>A ENSP00000376250.3:p.Val177Met
NM_174908.3:c.449-5017G>A NP_777568.1:n.449-5017G>A
NM_178335.2:c.529G>A NP_848018.1:p.Val177Met
XM_011512460.1:c.529G>A XP_011510762.1:p.Val177Met
NM_178335.3:c.529G>A MANE Select NP_848018.1:p.Val177Met
NM_174908.4:c.449-5017G>A NP_777568.1:n.449-5017G>A
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