Canonical Allele Identifier: CA3428893
Gene: KDM3B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138386614C>T , CM000667.2:g.138386614C>T GRCh38
NC_000005.9:g.137722303C>T , CM000667.1:g.137722303C>T GRCh37
NC_000005.8:g.137750202C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000314358.10:c.1373C>T MANE Select ENSP00000326563.5:p.Ser458Leu
ENST00000314358.9:c.1373C>T ENSP00000326563.5:p.Ser458Leu
ENST00000507996.5:c.38C>T ENSP00000423012.1:p.Ser13Leu
ENST00000510866.5:c.1083C>T ENSP00000425186.1:n.1083C>T
ENST00000542866.2:c.-7+6935C>T ENSP00000439462.2:n.-7+6935C>T
NM_016604.3:c.1373C>T NP_057688.2:p.Ser458Leu
XM_005272018.3:c.781-4399C>T XP_005272075.1:n.781-4399C>T
XM_011543488.1:c.1241C>T XP_011541790.1:p.Ser414Leu
XM_011543489.1:c.1229C>T XP_011541791.1:p.Ser410Leu
XM_005272018.4:c.781-4399C>T XP_005272075.1:n.781-4399C>T
XM_011543488.2:c.1241C>T XP_011541790.1:p.Ser414Leu
XM_011543489.2:c.1229C>T XP_011541791.1:p.Ser410Leu
XM_017009584.1:c.626C>T XP_016865073.1:p.Ser209Leu
XM_024446115.1:c.899C>T XP_024301883.1:p.Ser300Leu
NM_016604.4:c.1373C>T MANE Select NP_057688.3:p.Ser458Leu