Canonical Allele Identifier: CA34369428
Gene: CDC73 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.193135557G>A
GRCh37 chr1:g.193104687G>A
Revel Score:
ENST00000367435 (MANE Select) 0.323
ENST00000445394 0.323
gnomAD v2:
1:193104687 G / A
gnomAD v3:
1:193135557 G / A
gnomAD v4:
chr1-193135557-G-A
Joint Max Group AF 0.00003233 (AMR)
Exomes Max Group AF 0.00002985 (AMR)
ClinVar RCV:
RCV000558485
RCV001021438
ClinVar Variation:
462761
dbSNP:
769052041
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193135557G>A , CM000663.2:g.193135557G>A GRCh38
NC_000001.10:g.193104687G>A , CM000663.1:g.193104687G>A GRCh37
NC_000001.9:g.191371310G>A NCBI36
NG_012691.1:g.18600G>A , LRG_507:g.18600G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367435.5:c.391G>A MANE Select ENSP00000356405.4:p.Val131Ile
ENST00000635846.1:c.391G>A ENSP00000490035.1:p.Val131Ile
ENST00000643006.1:c.391G>A ENSP00000496633.1:p.Val131Ile
ENST00000643784.1:c.391G>A ENSP00000494944.1:p.Val131Ile
ENST00000647662.1:n.292G>A
ENST00000648071.1:c.*367G>A ENSP00000497513.1:n.*367G>A
ENST00000649606.1:n.404G>A
ENST00000649706.1:n.332G>A
ENST00000649895.1:n.609G>A
ENST00000650197.1:c.391G>A ENSP00000496929.1:p.Val131Ile
ENST00000367435.3:c.391G>A ENSP00000356405.3:p.Val131Ile
ENST00000482484.1:n.643G>A
NM_024529.4:c.391G>A , LRG_507t1:c.391G>A NP_078805.3:p.Val131Ile
XM_006711537.2:c.391G>A XP_006711600.1:p.Val131Ile
XM_006711537.4:c.391G>A XP_006711600.1:p.Val131Ile
NM_024529.5:c.391G>A MANE Select NP_078805.3:p.Val131Ile
Search 100 bp 5'
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