Canonical Allele Identifier: CA344272078

Gene: KDM5B

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.202758419T>C , CM000663.2:g.202758419T>C	GRCh38
NC_000001.10:g.202727547T>C , CM000663.1:g.202727547T>C	GRCh37
NC_000001.9:g.200994170T>C	NCBI36
NG_050659.1:g.55989A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235790.9:c.695A>G	ENSP00000235790.4:p.Lys232Arg
ENST00000367264.7:c.1277A>G	ENSP00000356233.2:p.Lys426Arg
ENST00000367265.9:c.1169A>G MANE Select	ENSP00000356234.3:p.Lys390Arg
ENST00000456180.2:n.168A>G
ENST00000647754.1:n.906A>G
ENST00000647757.1:n.1055A>G
ENST00000648056.1:c.1154A>G	ENSP00000497113.1:p.Lys385Arg
ENST00000648099.1:n.201A>G
ENST00000648338.1:c.1169A>G	ENSP00000497564.1:p.Lys390Arg
ENST00000648469.1:c.1046A>G	ENSP00000497827.1:p.Lys349Arg
ENST00000648473.1:c.1169A>G	ENSP00000497743.1:p.Lys390Arg
ENST00000649321.1:n.498A>G
ENST00000649542.1:n.1052A>G
ENST00000649770.1:c.1046A>G	ENSP00000497288.1:p.Lys349Arg
ENST00000650417.1:c.*595A>G	ENSP00000497297.1:n.*595A>G
ENST00000650422.1:n.1452A>G
ENST00000650569.1:c.1034A>G	ENSP00000497671.1:p.Lys345Arg
ENST00000235790.8:c.695A>G	ENSP00000235790.4:p.Lys232Arg
ENST00000367264.6:c.1277A>G	ENSP00000356233.2:p.Lys426Arg
ENST00000367265.7:c.1169A>G	ENSP00000356234.3:p.Lys390Arg
ENST00000456180.1:n.165A>G
NM_001314042.1:c.1277A>G	NP_001300971.1:p.Lys426Arg
NM_006618.3:c.1169A>G	NP_006609.3:p.Lys390Arg
NM_006618.4:c.1169A>G	NP_006609.3:p.Lys390Arg
XM_011509087.1:c.1277A>G	XP_011507389.1:p.Lys426Arg
XM_011509088.1:c.1034A>G	XP_011507390.1:p.Lys345Arg
XM_011509089.1:c.1196A>G	XP_011507391.1:p.Lys399Arg
XM_011509090.1:c.803A>G	XP_011507392.1:p.Lys268Arg
XM_011509091.1:c.803A>G	XP_011507393.1:p.Lys268Arg
XM_011509092.1:c.695A>G	XP_011507394.1:p.Lys232Arg
NM_001347591.1:c.1034A>G	NP_001334520.1:p.Lys345Arg
XM_011509090.3:c.803A>G	XP_011507392.1:p.Lys268Arg
XM_011509091.2:c.803A>G	XP_011507393.1:p.Lys268Arg
XM_011509092.2:c.695A>G	XP_011507394.1:p.Lys232Arg
NM_006618.5:c.1169A>G MANE Select	NP_006609.3:p.Lys390Arg
NM_001314042.2:c.1277A>G	NP_001300971.1:p.Lys426Arg
NM_001347591.2:c.1034A>G	NP_001334520.1:p.Lys345Arg
NM_001399817.1:c.1154A>G	NP_001386746.1:p.Lys385Arg