Canonical Allele Identifier: CA355763728
Gene: CCDC50 HGNC NCBI

Linked Data

gnomAD v4: 3-191375120-A-T
MyVariant Identifiers: chr3:g.191092909A>T (hg19) chr3:g.191375120A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191375120A>T , CM000665.2:g.191375120A>T GRCh38
NC_000003.11:g.191092909A>T , CM000665.1:g.191092909A>T GRCh37
NC_000003.10:g.192575603A>T NCBI36
NG_008994.1:g.51036A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.507A>T MANE Select ENSP00000376249.4:p.Arg169Ser
ENST00000392456.4:c.449-5039A>T ENSP00000376250.4:n.449-5039A>T
ENST00000392455.7:c.449-5039A>T ENSP00000376249.3:n.449-5039A>T
ENST00000392456.3:c.507A>T ENSP00000376250.3:p.Arg169Ser
NM_174908.3:c.449-5039A>T NP_777568.1:n.449-5039A>T
NM_178335.2:c.507A>T NP_848018.1:p.Arg169Ser
XM_011512460.1:c.507A>T XP_011510762.1:p.Arg169Ser
NM_178335.3:c.507A>T MANE Select NP_848018.1:p.Arg169Ser
NM_174908.4:c.449-5039A>T NP_777568.1:n.449-5039A>T
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Search 100 bp 3'