Canonical Allele Identifier: CA361111771
Community Standard Title: NM_016604.4(KDM3B):c.2828G>A (p.Arg943Gln)
Gene: KDM3B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138393369G>A , CM000667.2:g.138393369G>A GRCh38
NC_000005.9:g.137729058G>A , CM000667.1:g.137729058G>A GRCh37
NC_000005.8:g.137756957G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_016604.4:c.2828G>A MANE Select NP_057688.3:p.Arg943Gln
ENST00000314358.10:c.2828G>A MANE Select ENSP00000326563.5:p.Arg943Gln
NM_016604.3:c.2828G>A NP_057688.2:p.Arg943Gln
ENST00000314358.9:c.2828G>A ENSP00000326563.5:p.Arg943Gln
ENST00000507996.5:c.244G>A ENSP00000423012.1:n.244G>A
ENST00000510866.5:c.2538G>A ENSP00000425186.1:n.2538G>A
ENST00000542866.2:c.-6-4978G>A ENSP00000439462.2:n.-6-4978G>A
XM_005272018.3:c.2228G>A XP_005272075.1:p.Arg743Gln
XM_005272018.4:c.2228G>A XP_005272075.1:p.Arg743Gln
XM_011543488.1:c.2696G>A XP_011541790.1:p.Arg899Gln
XM_011543488.2:c.2696G>A XP_011541790.1:p.Arg899Gln
XM_011543489.1:c.2684G>A XP_011541791.1:p.Arg895Gln
XM_011543489.2:c.2684G>A XP_011541791.1:p.Arg895Gln
XM_017009584.1:c.2081G>A XP_016865073.1:p.Arg694Gln
XM_024446115.1:c.2354G>A XP_024301883.1:p.Arg785Gln