Canonical Allele Identifier: CA3429031
Community Standard Title: NM_016604.4(KDM3B):c.2252C>T (p.Thr751Ile)
Gene: KDM3B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138391884C>T , CM000667.2:g.138391884C>T GRCh38
NC_000005.9:g.137727573C>T , CM000667.1:g.137727573C>T GRCh37
NC_000005.8:g.137755472C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_016604.4:c.2252C>T MANE Select NP_057688.3:p.Thr751Ile
ENST00000314358.10:c.2252C>T MANE Select ENSP00000326563.5:p.Thr751Ile
NM_016604.3:c.2252C>T NP_057688.2:p.Thr751Ile
ENST00000314358.9:c.2252C>T ENSP00000326563.5:p.Thr751Ile
ENST00000507996.5:c.46-1287C>T ENSP00000423012.1:n.46-1287C>T
ENST00000510866.5:c.1962C>T ENSP00000425186.1:n.1962C>T
ENST00000542866.2:c.-6-6463C>T ENSP00000439462.2:n.-6-6463C>T
XM_005272018.3:c.1652C>T XP_005272075.1:p.Thr551Ile
XM_005272018.4:c.1652C>T XP_005272075.1:p.Thr551Ile
XM_011543488.1:c.2120C>T XP_011541790.1:p.Thr707Ile
XM_011543488.2:c.2120C>T XP_011541790.1:p.Thr707Ile
XM_011543489.1:c.2108C>T XP_011541791.1:p.Thr703Ile
XM_011543489.2:c.2108C>T XP_011541791.1:p.Thr703Ile
XM_017009584.1:c.1505C>T XP_016865073.1:p.Thr502Ile
XM_024446115.1:c.1778C>T XP_024301883.1:p.Thr593Ile