Canonical Allele Identifier: CA397928335
Community Standard Title: NM_001348716.2(KDM6B):c.4673G>A (p.Gly1558Glu)
Gene: KDM6B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7853062G>A , CM000679.2:g.7853062G>A GRCh38
NC_000017.10:g.7756380G>A , CM000679.1:g.7756380G>A GRCh37
NC_000017.9:g.7697105G>A NCBI36
NG_053032.1:g.23863G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001348716.2:c.4673G>A MANE Select NP_001335645.1:p.Gly1558Glu
ENST00000448097.7:c.4673G>A MANE Select ENSP00000412513.2:p.Gly1558Glu
NM_001080424.1:c.4673G>A NP_001073893.1:p.Gly1558Glu
NM_001080424.2:c.4673G>A NP_001073893.1:p.Gly1558Glu
NM_001348716.1:c.4673G>A NP_001335645.1:p.Gly1558Glu
ENST00000254846.9:c.4673G>A ENSP00000254846.5:p.Gly1558Glu
ENST00000448097.6:c.4673G>A ENSP00000412513.2:p.Gly1558Glu
XM_005256549.2:c.4673G>A XP_005256606.1:p.Gly1558Glu
XM_005256549.3:c.4673G>A XP_005256606.1:p.Gly1558Glu
XM_005256550.3:c.4673G>A XP_005256607.1:p.Gly1558Glu
XM_005256550.4:c.4673G>A XP_005256607.1:p.Gly1558Glu
XM_005256551.2:c.4673G>A XP_005256608.1:p.Gly1558Glu
XM_005256551.3:c.4673G>A XP_005256608.1:p.Gly1558Glu
XM_005256552.3:c.4673G>A XP_005256609.1:p.Gly1558Glu
XM_005256552.5:c.4673G>A XP_005256609.1:p.Gly1558Glu
XM_005256554.3:c.4673G>A XP_005256611.1:p.Gly1558Glu
XM_006721483.2:c.4673G>A XP_006721546.1:p.Gly1558Glu
XM_006721483.3:c.4673G>A XP_006721546.1:p.Gly1558Glu
XM_006721484.2:c.4673G>A XP_006721547.1:p.Gly1558Glu
XM_011523750.1:c.4673G>A XP_011522052.1:p.Gly1558Glu
XM_011523750.2:c.4673G>A XP_011522052.1:p.Gly1558Glu
XM_011523751.1:c.4673G>A XP_011522053.1:p.Gly1558Glu
XM_011523752.1:c.4673G>A XP_011522054.1:p.Gly1558Glu
XM_011523752.3:c.4673G>A XP_011522054.1:p.Gly1558Glu
XM_011523753.1:c.4673G>A XP_011522055.1:p.Gly1558Glu