Canonical Allele Identifier: CA128184440
Community Standard Title: NM_016604.4(KDM3B):c.950G>T (p.Gly317Val)
Gene: KDM3B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138386191G>T , CM000667.2:g.138386191G>T GRCh38
NC_000005.9:g.137721880G>T , CM000667.1:g.137721880G>T GRCh37
NC_000005.8:g.137749779G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_016604.4:c.950G>T MANE Select NP_057688.3:p.Gly317Val
ENST00000314358.10:c.950G>T MANE Select ENSP00000326563.5:p.Gly317Val
NM_016604.3:c.950G>T NP_057688.2:p.Gly317Val
ENST00000314358.9:c.950G>T ENSP00000326563.5:p.Gly317Val
ENST00000510866.5:c.757+1G>T ENSP00000425186.1:n.757+1G>T
ENST00000542866.2:c.-7+6512G>T ENSP00000439462.2:n.-7+6512G>T
XM_005272018.3:c.780+4601G>T XP_005272075.1:n.780+4601G>T
XM_005272018.4:c.780+4601G>T XP_005272075.1:n.780+4601G>T
XM_011543488.1:c.818G>T XP_011541790.1:p.Gly273Val
XM_011543488.2:c.818G>T XP_011541790.1:p.Gly273Val
XM_011543489.1:c.806G>T XP_011541791.1:p.Gly269Val
XM_011543489.2:c.806G>T XP_011541791.1:p.Gly269Val
XM_017009584.1:c.203G>T XP_016865073.1:p.Gly68Val
XM_024446115.1:c.476G>T XP_024301883.1:p.Gly159Val