Canonical Allele Identifier: CA3428775
Community Standard Title: NM_016604.4(KDM3B):c.714G>A (p.Glu238=)
Gene: KDM3B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138381524G>A , CM000667.2:g.138381524G>A GRCh38
NC_000005.9:g.137717213G>A , CM000667.1:g.137717213G>A GRCh37
NC_000005.8:g.137745112G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_016604.4:c.714G>A MANE Select NP_057688.3:p.Glu238=
ENST00000314358.10:c.714G>A MANE Select ENSP00000326563.5:p.Glu238=
NM_016604.3:c.714G>A NP_057688.2:p.Glu238=
ENST00000314358.9:c.714G>A ENSP00000326563.5:p.Glu238=
ENST00000510866.5:c.522G>A ENSP00000425186.1:p.Glu174=
ENST00000512928.1:n.403G>A
ENST00000542866.2:c.-7+1845G>A ENSP00000439462.2:n.-7+1845G>A
XM_005272018.3:c.714G>A XP_005272075.1:p.Glu238=
XM_005272018.4:c.714G>A XP_005272075.1:p.Glu238=
XM_011543488.1:c.582G>A XP_011541790.1:p.Glu194=
XM_011543488.2:c.582G>A XP_011541790.1:p.Glu194=
XM_011543489.1:c.570G>A XP_011541791.1:p.Glu190=
XM_011543489.2:c.570G>A XP_011541791.1:p.Glu190=
XM_017009584.1:c.-34G>A XP_016865073.1:n.-34G>A
XM_024446115.1:c.240G>A XP_024301883.1:p.Glu80=