Canonical Allele Identifier: CA344267154
Gene: KDM5B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.202749105C>A , CM000663.2:g.202749105C>A GRCh38
NC_000001.10:g.202718233C>A , CM000663.1:g.202718233C>A GRCh37
NC_000001.9:g.200984856C>A NCBI36
NG_050659.1:g.65303G>T

Transcript Alleles

HGVS Amino-acid Change
NM_006618.5:c.1856G>T MANE Select NP_006609.3:p.Arg619Leu
ENST00000367265.9:c.1856G>T MANE Select ENSP00000356234.3:p.Arg619Leu
NM_001314042.1:c.1964G>T NP_001300971.1:p.Arg655Leu
NM_001314042.2:c.1964G>T NP_001300971.1:p.Arg655Leu
NM_001347591.1:c.1721G>T NP_001334520.1:p.Arg574Leu
NM_001347591.2:c.1721G>T NP_001334520.1:p.Arg574Leu
NM_001399817.1:c.1841G>T NP_001386746.1:p.Arg614Leu
NM_006618.3:c.1856G>T NP_006609.3:p.Arg619Leu
NM_006618.4:c.1856G>T NP_006609.3:p.Arg619Leu
ENST00000235790.8:c.1382G>T ENSP00000235790.4:p.Arg461Leu
ENST00000235790.9:c.1382G>T ENSP00000235790.4:p.Arg461Leu
ENST00000367264.6:c.1964G>T ENSP00000356233.2:p.Arg655Leu
ENST00000367264.7:c.1964G>T ENSP00000356233.2:p.Arg655Leu
ENST00000367265.7:c.1856G>T ENSP00000356234.3:p.Arg619Leu
ENST00000647754.1:n.1593G>T
ENST00000647757.1:n.1742G>T
ENST00000648056.1:c.1841G>T ENSP00000497113.1:p.Arg614Leu
ENST00000648338.1:c.1856G>T ENSP00000497564.1:p.Arg619Leu
ENST00000648469.1:c.1733G>T ENSP00000497827.1:p.Arg578Leu
ENST00000648473.1:c.1856G>T ENSP00000497743.1:p.Arg619Leu
ENST00000649089.1:c.79G>T
ENST00000649542.1:n.1739G>T
ENST00000649770.1:c.1733G>T ENSP00000497288.1:p.Arg578Leu
ENST00000649929.1:c.418G>T
ENST00000650417.1:c.*1282G>T ENSP00000497297.1:n.*1282G>T
ENST00000650422.1:n.2139G>T
ENST00000650569.1:c.1721G>T ENSP00000497671.1:p.Arg574Leu
XM_011509087.1:c.1964G>T XP_011507389.1:p.Arg655Leu
XM_011509088.1:c.1721G>T XP_011507390.1:p.Arg574Leu
XM_011509089.1:c.1883G>T XP_011507391.1:p.Arg628Leu
XM_011509090.1:c.1490G>T XP_011507392.1:p.Arg497Leu
XM_011509090.3:c.1490G>T XP_011507392.1:p.Arg497Leu
XM_011509091.1:c.1490G>T XP_011507393.1:p.Arg497Leu
XM_011509091.2:c.1490G>T XP_011507393.1:p.Arg497Leu
XM_011509092.1:c.1382G>T XP_011507394.1:p.Arg461Leu
XM_011509092.2:c.1382G>T XP_011507394.1:p.Arg461Leu