Canonical Allele Identifier: CA355763930
Gene: CCDC50 HGNC NCBI

Linked Data

gnomAD v4: 3-191375161-A-C
MyVariant Identifiers: chr3:g.191092950A>C (hg19) chr3:g.191375161A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191375161A>C , CM000665.2:g.191375161A>C GRCh38
NC_000003.11:g.191092950A>C , CM000665.1:g.191092950A>C GRCh37
NC_000003.10:g.192575644A>C NCBI36
NG_008994.1:g.51077A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.548A>C MANE Select ENSP00000376249.4:p.Lys183Thr
ENST00000392456.4:c.449-4998A>C ENSP00000376250.4:n.449-4998A>C
ENST00000392455.7:c.449-4998A>C ENSP00000376249.3:n.449-4998A>C
ENST00000392456.3:c.548A>C ENSP00000376250.3:p.Lys183Thr
NM_174908.3:c.449-4998A>C NP_777568.1:n.449-4998A>C
NM_178335.2:c.548A>C NP_848018.1:p.Lys183Thr
XM_011512460.1:c.548A>C XP_011510762.1:p.Lys183Thr
NM_178335.3:c.548A>C MANE Select NP_848018.1:p.Lys183Thr
NM_174908.4:c.449-4998A>C NP_777568.1:n.449-4998A>C
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