Canonical Allele Identifier: CA344262536

Gene: KDM5B

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.202733837G>C , CM000663.2:g.202733837G>C	GRCh38
NC_000001.10:g.202702965G>C , CM000663.1:g.202702965G>C	GRCh37
NC_000001.9:g.200969588G>C	NCBI36
NG_050659.1:g.80571C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006618.5:c.3473C>G MANE Select	NP_006609.3:p.Ser1158Cys
ENST00000367265.9:c.3473C>G MANE Select	ENSP00000356234.3:p.Ser1158Cys
NM_001314042.1:c.3581C>G	NP_001300971.1:p.Ser1194Cys
NM_001314042.2:c.3581C>G	NP_001300971.1:p.Ser1194Cys
NM_001347591.1:c.3338C>G	NP_001334520.1:p.Ser1113Cys
NM_001347591.2:c.3338C>G	NP_001334520.1:p.Ser1113Cys
NM_001399817.1:c.3458C>G	NP_001386746.1:p.Ser1153Cys
NM_006618.3:c.3473C>G	NP_006609.3:p.Ser1158Cys
NM_006618.4:c.3473C>G	NP_006609.3:p.Ser1158Cys
ENST00000235790.8:c.2999C>G	ENSP00000235790.4:p.Ser1000Cys
ENST00000235790.9:c.2999C>G	ENSP00000235790.4:p.Ser1000Cys
ENST00000367264.6:c.3581C>G	ENSP00000356233.2:p.Ser1194Cys
ENST00000367264.7:c.3581C>G	ENSP00000356233.2:p.Ser1194Cys
ENST00000367265.7:c.3473C>G	ENSP00000356234.3:p.Ser1158Cys
ENST00000472822.5:n.233C>G
ENST00000472822.6:n.479C>G
ENST00000498276.2:n.1559C>G
ENST00000647657.1:n.436C>G
ENST00000647757.1:n.3359C>G
ENST00000648056.1:c.3458C>G	ENSP00000497113.1:p.Ser1153Cys
ENST00000648338.1:c.3473C>G	ENSP00000497564.1:p.Ser1158Cys
ENST00000648469.1:c.3350C>G	ENSP00000497827.1:p.Ser1117Cys
ENST00000648473.1:c.3473C>G	ENSP00000497743.1:p.Ser1158Cys
ENST00000649089.1:c.1517C>G
ENST00000649230.1:n.2699C>G
ENST00000649400.1:n.1205C>G
ENST00000649542.1:n.3356C>G
ENST00000649770.1:c.3350C>G	ENSP00000497288.1:p.Ser1117Cys
ENST00000650417.1:c.*2899C>G	ENSP00000497297.1:n.*2899C>G
ENST00000650506.1:n.1649C>G
ENST00000650569.1:c.3338C>G	ENSP00000497671.1:p.Ser1113Cys
XM_011509087.1:c.3581C>G	XP_011507389.1:p.Ser1194Cys
XM_011509088.1:c.3338C>G	XP_011507390.1:p.Ser1113Cys
XM_011509089.1:c.3500C>G	XP_011507391.1:p.Ser1167Cys
XM_011509090.1:c.3107C>G	XP_011507392.1:p.Ser1036Cys
XM_011509090.3:c.3107C>G	XP_011507392.1:p.Ser1036Cys
XM_011509091.1:c.3107C>G	XP_011507393.1:p.Ser1036Cys
XM_011509091.2:c.3107C>G	XP_011507393.1:p.Ser1036Cys
XM_011509092.1:c.2999C>G	XP_011507394.1:p.Ser1000Cys
XM_011509092.2:c.2999C>G	XP_011507394.1:p.Ser1000Cys