Canonical Allele Identifier: CA397928515

Gene: KDM6B

Linked Data

• ClinVar Variation Id: 2820630
• ClinVar RCV Id: RCV003709282
• MyVariant Identifiers: chr17:g.7756533G>T (hg19) ; chr17:g.7853215G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7853215G>T , CM000679.2:g.7853215G>T	GRCh38
NC_000017.10:g.7756533G>T , CM000679.1:g.7756533G>T	GRCh37
NC_000017.9:g.7697258G>T	NCBI36
NG_053032.1:g.24016G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448097.7:c.4743G>T MANE Select	ENSP00000412513.2:p.Glu1581Asp
ENST00000254846.9:c.4743G>T	ENSP00000254846.5:p.Glu1581Asp
ENST00000448097.6:c.4743G>T	ENSP00000412513.2:p.Glu1581Asp
NM_001080424.1:c.4743G>T	NP_001073893.1:p.Glu1581Asp
XM_005256549.2:c.4743G>T	XP_005256606.1:p.Glu1581Asp
XM_005256550.3:c.4743G>T	XP_005256607.1:p.Glu1581Asp
XM_005256551.2:c.4743G>T	XP_005256608.1:p.Glu1581Asp
XM_005256552.3:c.4743G>T	XP_005256609.1:p.Glu1581Asp
XM_005256554.3:c.4743G>T	XP_005256611.1:p.Glu1581Asp
XM_006721483.2:c.4743G>T	XP_006721546.1:p.Glu1581Asp
XM_006721484.2:c.4743G>T	XP_006721547.1:p.Glu1581Asp
XM_011523750.1:c.4743G>T	XP_011522052.1:p.Glu1581Asp
XM_011523751.1:c.4743G>T	XP_011522053.1:p.Glu1581Asp
XM_011523752.1:c.4743G>T	XP_011522054.1:p.Glu1581Asp
XM_011523753.1:c.4743G>T	XP_011522055.1:p.Glu1581Asp
NM_001080424.2:c.4743G>T	NP_001073893.1:p.Glu1581Asp
NM_001348716.1:c.4743G>T	NP_001335645.1:p.Glu1581Asp
XM_005256549.3:c.4743G>T	XP_005256606.1:p.Glu1581Asp
XM_005256550.4:c.4743G>T	XP_005256607.1:p.Glu1581Asp
XM_005256551.3:c.4743G>T	XP_005256608.1:p.Glu1581Asp
XM_005256552.5:c.4743G>T	XP_005256609.1:p.Glu1581Asp
XM_006721483.3:c.4743G>T	XP_006721546.1:p.Glu1581Asp
XM_011523750.2:c.4743G>T	XP_011522052.1:p.Glu1581Asp
XM_011523752.3:c.4743G>T	XP_011522054.1:p.Glu1581Asp
NM_001348716.2:c.4743G>T MANE Select	NP_001335645.1:p.Glu1581Asp