Canonical Allele Identifier: CA1303426
Gene: CDC73 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.193141985T>A
GRCh37 chr1:g.193111115T>A
gnomAD v2:
1:193111115 T / A
gnomAD v3:
1:193141985 T / A
gnomAD v4:
chr1-193141985-T-A
Joint Max Group AF 0.00010243 (AFR)
Genomes Max Group AF 0.00013029 (AFR)
Exomes Max Group AF 0.00002374 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193141985T>A , CM000663.2:g.193141985T>A GRCh38
NC_000001.10:g.193111115T>A , CM000663.1:g.193111115T>A GRCh37
NC_000001.9:g.191377738T>A NCBI36
NG_012691.1:g.25028T>A , LRG_507:g.25028T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367435.5:c.648T>A MANE Select ENSP00000356405.4:p.Ala216=
ENST00000635846.1:c.648T>A ENSP00000490035.1:p.Ala216=
ENST00000643006.1:c.648T>A ENSP00000496633.1:p.Ala216=
ENST00000643784.1:c.*124T>A ENSP00000494944.1:n.*124T>A
ENST00000647662.1:n.549T>A
ENST00000648071.1:c.*624T>A ENSP00000497513.1:n.*624T>A
ENST00000649606.1:n.661T>A
ENST00000649895.1:n.866T>A
ENST00000650197.1:c.648T>A ENSP00000496929.1:p.Ala216=
ENST00000367435.3:c.648T>A ENSP00000356405.3:p.Ala216=
NM_024529.4:c.648T>A , LRG_507t1:c.648T>A NP_078805.3:p.Ala216=
XM_006711537.2:c.648T>A XP_006711600.1:p.Ala216=
XM_006711537.4:c.648T>A XP_006711600.1:p.Ala216=
NM_024529.5:c.648T>A MANE Select NP_078805.3:p.Ala216=
Search 100 bp 5'
Search 100 bp 3'