Canonical Allele Identifier: CA344264669

Gene: KDM5B

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.202741427T>G , CM000663.2:g.202741427T>G	GRCh38
NC_000001.10:g.202710555T>G , CM000663.1:g.202710555T>G	GRCh37
NC_000001.9:g.200977178T>G	NCBI36
NG_050659.1:g.72981A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235790.9:c.2411A>C	ENSP00000235790.4:p.Gln804Pro
ENST00000367264.7:c.2993A>C	ENSP00000356233.2:p.Gln998Pro
ENST00000367265.9:c.2885A>C MANE Select	ENSP00000356234.3:p.Gln962Pro
ENST00000498276.2:n.1031+119A>C
ENST00000647757.1:n.2771A>C
ENST00000648056.1:c.2870A>C	ENSP00000497113.1:p.Gln957Pro
ENST00000648338.1:c.2885A>C	ENSP00000497564.1:p.Gln962Pro
ENST00000648469.1:c.2762A>C	ENSP00000497827.1:p.Gln921Pro
ENST00000648473.1:c.2885A>C	ENSP00000497743.1:p.Gln962Pro
ENST00000649089.1:c.989+119A>C
ENST00000649230.1:n.2111A>C
ENST00000649400.1:n.617A>C
ENST00000649542.1:n.2768A>C
ENST00000649770.1:c.2762A>C	ENSP00000497288.1:p.Gln921Pro
ENST00000650417.1:c.*2311A>C	ENSP00000497297.1:n.*2311A>C
ENST00000650422.1:n.3168A>C
ENST00000650506.1:n.1061A>C
ENST00000650569.1:c.2750A>C	ENSP00000497671.1:p.Gln917Pro
ENST00000235790.8:c.2411A>C	ENSP00000235790.4:p.Gln804Pro
ENST00000367264.6:c.2993A>C	ENSP00000356233.2:p.Gln998Pro
ENST00000367265.7:c.2885A>C	ENSP00000356234.3:p.Gln962Pro
NM_001314042.1:c.2993A>C	NP_001300971.1:p.Gln998Pro
NM_006618.3:c.2885A>C	NP_006609.3:p.Gln962Pro
NM_006618.4:c.2885A>C	NP_006609.3:p.Gln962Pro
XM_011509087.1:c.2993A>C	XP_011507389.1:p.Gln998Pro
XM_011509088.1:c.2750A>C	XP_011507390.1:p.Gln917Pro
XM_011509089.1:c.2912A>C	XP_011507391.1:p.Gln971Pro
XM_011509090.1:c.2519A>C	XP_011507392.1:p.Gln840Pro
XM_011509091.1:c.2519A>C	XP_011507393.1:p.Gln840Pro
XM_011509092.1:c.2411A>C	XP_011507394.1:p.Gln804Pro
NM_001347591.1:c.2750A>C	NP_001334520.1:p.Gln917Pro
XM_011509090.3:c.2519A>C	XP_011507392.1:p.Gln840Pro
XM_011509091.2:c.2519A>C	XP_011507393.1:p.Gln840Pro
XM_011509092.2:c.2411A>C	XP_011507394.1:p.Gln804Pro
NM_006618.5:c.2885A>C MANE Select	NP_006609.3:p.Gln962Pro
NM_001314042.2:c.2993A>C	NP_001300971.1:p.Gln998Pro
NM_001347591.2:c.2750A>C	NP_001334520.1:p.Gln917Pro
NM_001399817.1:c.2870A>C	NP_001386746.1:p.Gln957Pro