Canonical Allele Identifier: CA1779196214
Community Standard Title: NM_006766.5(KAT6A):c.4108G= (p.Glu1370=)
Gene: KAT6A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.41934112C= , CM000670.2:g.41934112C= GRCh38
NC_000008.10:g.41791630C= , CM000670.1:g.41791630C= GRCh37
NC_000008.9:g.41910787C= NCBI36
NG_042093.1:g.122915G=

Transcript Alleles

HGVS Amino-acid Change
NM_006766.5:c.4108G= MANE Select NP_006757.2:p.Glu1370=
ENST00000265713.8:c.4108G= MANE Select ENSP00000265713.2:p.Glu1370=
NM_001099412.1:c.4108G= NP_001092882.1:p.Glu1370=
NM_001099413.1:c.4108G= NP_001092883.1:p.Glu1370=
NM_006766.3:c.4108G= NP_006757.2:p.Glu1370=
NM_006766.4:c.4108G= NP_006757.2:p.Glu1370=
ENST00000265713.6:c.4108G= ENSP00000265713.2:p.Glu1370=
ENST00000396930.3:c.4108G= ENSP00000380136.3:p.Glu1370=
ENST00000396930.4:c.4108G= ENSP00000380136.3:p.Glu1370=
ENST00000406337.5:c.4108G= ENSP00000385888.1:p.Glu1370=
ENST00000406337.6:c.4114G= ENSP00000385888.2:p.Glu1372=
ENST00000648335.1:c.4108G= ENSP00000497086.1:p.Glu1370=
ENST00000649817.1:c.2789G=
XM_011544656.1:c.4240G= XP_011542958.1:p.Glu1414=
XM_011544656.2:c.4240G= XP_011542958.1:p.Glu1414=
XM_011544657.1:c.4240G= XP_011542959.1:p.Glu1414=
XM_011544657.3:c.4240G= XP_011542959.1:p.Glu1414=
XM_011544658.1:c.4240G= XP_011542960.1:p.Glu1414=
XM_011544658.3:c.4240G= XP_011542960.1:p.Glu1414=
XM_011544659.1:c.4219G= XP_011542961.1:p.Glu1407=
XM_011544659.2:c.4219G= XP_011542961.1:p.Glu1407=
XM_011544660.1:c.4126G= XP_011542962.1:p.Glu1376=
XM_017013863.1:c.4108G= XP_016869352.1:p.Glu1370=
XM_017013864.2:c.4108G= XP_016869353.1:p.Glu1370=
XM_024447285.1:c.2680G= XP_024303053.1:p.Glu894=