Canonical Allele Identifier: CA344260308

Gene: KDM5B

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.202729721G>A , CM000663.2:g.202729721G>A	GRCh38
NC_000001.10:g.202698849G>A , CM000663.1:g.202698849G>A	GRCh37
NC_000001.9:g.200965472G>A	NCBI36
NG_050659.1:g.84687C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006618.5:c.4483C>T MANE Select	NP_006609.3:p.Pro1495Ser
ENST00000367265.9:c.4483C>T MANE Select	ENSP00000356234.3:p.Pro1495Ser
NM_001314042.1:c.4591C>T	NP_001300971.1:p.Pro1531Ser
NM_001314042.2:c.4591C>T	NP_001300971.1:p.Pro1531Ser
NM_001347591.1:c.4348C>T	NP_001334520.1:p.Pro1450Ser
NM_001347591.2:c.4348C>T	NP_001334520.1:p.Pro1450Ser
NM_001399817.1:c.4468C>T	NP_001386746.1:p.Pro1490Ser
NM_006618.3:c.4483C>T	NP_006609.3:p.Pro1495Ser
NM_006618.4:c.4483C>T	NP_006609.3:p.Pro1495Ser
ENST00000367264.6:c.4591C>T	ENSP00000356233.2:p.Pro1531Ser
ENST00000367264.7:c.4591C>T	ENSP00000356233.2:p.Pro1531Ser
ENST00000367265.7:c.4483C>T	ENSP00000356234.3:p.Pro1495Ser
ENST00000472822.5:n.1243C>T
ENST00000472822.6:n.1489C>T
ENST00000491153.2:n.1455C>T
ENST00000498276.2:n.2569C>T
ENST00000647657.1:n.1446C>T
ENST00000647747.1:n.1482C>T
ENST00000647757.1:n.4369C>T
ENST00000648056.1:c.4468C>T	ENSP00000497113.1:p.Pro1490Ser
ENST00000648338.1:c.4483C>T	ENSP00000497564.1:p.Pro1495Ser
ENST00000648469.1:c.4360C>T	ENSP00000497827.1:p.Pro1454Ser
ENST00000648473.1:c.4483C>T	ENSP00000497743.1:p.Pro1495Ser
ENST00000649089.1:c.2527C>T
ENST00000649230.1:n.3709C>T
ENST00000649339.1:n.824C>T
ENST00000649400.1:n.2979C>T
ENST00000649542.1:n.4366C>T
ENST00000649770.1:c.4360C>T	ENSP00000497288.1:p.Pro1454Ser
ENST00000650417.1:c.*3909C>T	ENSP00000497297.1:n.*3909C>T
ENST00000650506.1:n.4120C>T
ENST00000650569.1:c.4348C>T	ENSP00000497671.1:p.Pro1450Ser
XM_011509087.1:c.4591C>T	XP_011507389.1:p.Pro1531Ser
XM_011509088.1:c.4348C>T	XP_011507390.1:p.Pro1450Ser
XM_011509089.1:c.4510C>T	XP_011507391.1:p.Pro1504Ser
XM_011509090.1:c.4117C>T	XP_011507392.1:p.Pro1373Ser
XM_011509090.3:c.4117C>T	XP_011507392.1:p.Pro1373Ser
XM_011509091.1:c.4117C>T	XP_011507393.1:p.Pro1373Ser
XM_011509091.2:c.4117C>T	XP_011507393.1:p.Pro1373Ser
XM_011509092.1:c.4009C>T	XP_011507394.1:p.Pro1337Ser
XM_011509092.2:c.4009C>T	XP_011507394.1:p.Pro1337Ser