Canonical Allele Identifier: CA114063
Community Standard Title: NM_182758.4(WDR72):c.2348C>G (p.Ser783Ter)
Gene: WDR72 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.53615858G>C , CM000677.2:g.53615858G>C GRCh38
NC_000015.9:g.53908055G>C , CM000677.1:g.53908055G>C GRCh37
NC_000015.8:g.51695347G>C NCBI36
NG_017034.2:g.148805C>G

Transcript Alleles

HGVS Amino-acid Change
NM_182758.4:c.2348C>G MANE Select NP_877435.3:p.Ser783Ter
ENST00000360509.10:c.2348C>G MANE Select ENSP00000353699.5:p.Ser783Ter
NM_182758.3:c.2348C>G NP_877435.3:p.Ser783Ter
NR_102334.1:n.2588C>G
NR_102334.2:n.2588C>G
ENST00000360509.9:c.2348C>G ENSP00000353699.5:p.Ser783Ter
ENST00000396328.5:c.2348C>G ENSP00000379619.1:p.Ser783Ter
ENST00000557913.5:c.2339C>G ENSP00000453378.1:p.Ser780Ter
ENST00000559418.5:c.2378C>G ENSP00000452765.1:p.Ser793Ter
XM_011521433.1:c.2348C>G XP_011519735.1:p.Ser783Ter
XM_011521433.2:c.2348C>G XP_011519735.1:p.Ser783Ter
XM_011521434.1:c.2348C>G XP_011519736.1:p.Ser783Ter
XM_011521435.1:c.2348C>G XP_011519737.1:p.Ser783Ter
XM_011521435.2:c.2348C>G XP_011519737.1:p.Ser783Ter
XM_011521436.1:c.2330C>G XP_011519738.1:p.Ser777Ter
XM_011521436.2:c.2330C>G XP_011519738.1:p.Ser777Ter
XM_011521437.1:c.2228C>G XP_011519739.1:p.Ser743Ter
XM_011521437.2:c.2228C>G XP_011519739.1:p.Ser743Ter
XM_017022061.1:c.2348C>G XP_016877550.1:p.Ser783Ter