Canonical Allele Identifier: CA2963570321
Community Standard Title: NM_001348716.2(KDM6B):c.4611-69C>A
Gene: KDM6B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7852931C>A , CM000679.2:g.7852931C>A GRCh38
NC_000017.10:g.7756249C>A , CM000679.1:g.7756249C>A GRCh37
NC_000017.9:g.7696974C>A NCBI36
NG_053032.1:g.23732C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001348716.2:c.4611-69C>A MANE Select NP_001335645.1:n.4611-69C>A
ENST00000448097.7:c.4611-69C>A MANE Select ENSP00000412513.2:n.4611-69C>A
NM_001080424.1:c.4611-69C>A NP_001073893.1:n.4611-69C>A
NM_001080424.2:c.4611-69C>A NP_001073893.1:n.4611-69C>A
NM_001348716.1:c.4611-69C>A NP_001335645.1:n.4611-69C>A
ENST00000254846.9:c.4611-69C>A ENSP00000254846.5:n.4611-69C>A
ENST00000448097.6:c.4611-69C>A ENSP00000412513.2:n.4611-69C>A
XM_005256549.2:c.4611-69C>A XP_005256606.1:n.4611-69C>A
XM_005256549.3:c.4611-69C>A XP_005256606.1:n.4611-69C>A
XM_005256550.3:c.4611-69C>A XP_005256607.1:n.4611-69C>A
XM_005256550.4:c.4611-69C>A XP_005256607.1:n.4611-69C>A
XM_005256551.2:c.4611-69C>A XP_005256608.1:n.4611-69C>A
XM_005256551.3:c.4611-69C>A XP_005256608.1:n.4611-69C>A
XM_005256552.3:c.4611-69C>A XP_005256609.1:n.4611-69C>A
XM_005256552.5:c.4611-69C>A XP_005256609.1:n.4611-69C>A
XM_005256554.3:c.4611-69C>A XP_005256611.1:n.4611-69C>A
XM_006721483.2:c.4611-69C>A XP_006721546.1:n.4611-69C>A
XM_006721483.3:c.4611-69C>A XP_006721546.1:n.4611-69C>A
XM_006721484.2:c.4611-69C>A XP_006721547.1:n.4611-69C>A
XM_011523750.1:c.4611-69C>A XP_011522052.1:n.4611-69C>A
XM_011523750.2:c.4611-69C>A XP_011522052.1:n.4611-69C>A
XM_011523751.1:c.4611-69C>A XP_011522053.1:n.4611-69C>A
XM_011523752.1:c.4611-69C>A XP_011522054.1:n.4611-69C>A
XM_011523752.3:c.4611-69C>A XP_011522054.1:n.4611-69C>A
XM_011523753.1:c.4611-69C>A XP_011522055.1:n.4611-69C>A