Canonical Allele Identifier: CA11233622
Community Standard Title: NM_207363.3(NCKAP5):c.69+44812C>A
Gene: NCKAP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.133472646G>T , CM000664.2:g.133472646G>T GRCh38
NC_000002.11:g.134230217G>T , CM000664.1:g.134230217G>T GRCh37
NC_000002.10:g.133946687G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_207363.3:c.69+44812C>A MANE Select NP_997246.2:n.69+44812C>A
ENST00000409261.6:c.69+44812C>A MANE Select ENSP00000387128.1:n.69+44812C>A
NM_207363.2:c.69+44812C>A NP_997246.2:n.69+44812C>A
NM_207481.3:c.69+44812C>A NP_997364.3:n.69+44812C>A
NM_207481.4:c.69+44812C>A NP_997364.3:n.69+44812C>A
ENST00000317721.10:c.69+44812C>A ENSP00000380603.4:n.69+44812C>A
ENST00000358991.4:c.69+44812C>A ENSP00000351882.4:n.69+44812C>A
ENST00000405974.7:c.69+44812C>A ENSP00000385692.4:n.69+44812C>A
ENST00000409213.5:c.69+44812C>A ENSP00000386952.1:n.69+44812C>A
ENST00000409261.5:c.69+44812C>A ENSP00000387128.1:n.69+44812C>A
ENST00000427594.5:c.56+44812C>A
XM_005263659.2:c.69+44812C>A XP_005263716.1:n.69+44812C>A
XM_005263659.4:c.69+44812C>A XP_005263716.1:n.69+44812C>A
XM_005263660.2:c.69+44812C>A XP_005263717.1:n.69+44812C>A
XM_005263660.4:c.69+44812C>A XP_005263717.1:n.69+44812C>A
XM_006712490.2:c.69+44812C>A XP_006712553.1:n.69+44812C>A
XM_011511097.1:c.69+44812C>A XP_011509399.1:n.69+44812C>A
XM_011511097.3:c.69+44812C>A XP_011509399.1:n.69+44812C>A
XM_011511098.1:c.69+44812C>A XP_011509400.1:n.69+44812C>A
XM_011511099.1:c.69+44812C>A XP_011509401.1:n.69+44812C>A
XM_011511099.3:c.69+44812C>A XP_011509401.1:n.69+44812C>A
XM_011511100.1:c.69+44812C>A XP_011509402.1:n.69+44812C>A
XM_011511100.3:c.69+44812C>A XP_011509402.1:n.69+44812C>A
XM_011511104.1:c.-62+44812C>A XP_011509406.1:n.-62+44812C>A
XM_017003974.1:c.69+44812C>A XP_016859463.1:n.69+44812C>A
XM_017003975.2:c.69+44812C>A XP_016859464.1:n.69+44812C>A
XM_017003976.2:c.-147+44812C>A XP_016859465.1:n.-147+44812C>A
XM_017003979.2:c.69+44812C>A XP_016859468.1:n.69+44812C>A