Canonical Allele Identifier: CA422345255
Gene: CDC73 HGNC NCBI

Linked Data

dbSNP Id: rs2103126493
MyVariant Identifiers: chr1:g.193111184A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193142054A>G , CM000663.2:g.193142054A>G GRCh38
NC_000001.10:g.193111184A>G , CM000663.1:g.193111184A>G GRCh37
NC_000001.9:g.191377807A>G NCBI36
NG_012691.1:g.25097A>G , LRG_507:g.25097A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367435.5:c.717A>G MANE Select ENSP00000356405.4:p.Gln239=
ENST00000635846.1:c.717A>G ENSP00000490035.1:p.Gln239=
ENST00000643006.1:c.717A>G ENSP00000496633.1:p.Gln239=
ENST00000643784.1:c.*193A>G ENSP00000494944.1:n.*193A>G
ENST00000647662.1:n.618A>G
ENST00000648071.1:c.*693A>G ENSP00000497513.1:n.*693A>G
ENST00000649606.1:n.730A>G
ENST00000649895.1:n.935A>G
ENST00000650197.1:c.717A>G ENSP00000496929.1:p.Gln239=
ENST00000367435.3:c.717A>G ENSP00000356405.3:p.Gln239=
NM_024529.4:c.717A>G , LRG_507t1:c.717A>G NP_078805.3:p.Gln239=
XM_006711537.2:c.717A>G XP_006711600.1:p.Gln239=
XM_006711537.4:c.717A>G XP_006711600.1:p.Gln239=
NM_024529.5:c.717A>G MANE Select NP_078805.3:p.Gln239=