Canonical Allele Identifier: CA1334252

Gene: KDM5B

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.202736327G>C , CM000663.2:g.202736327G>C	GRCh38
NC_000001.10:g.202705455G>C , CM000663.1:g.202705455G>C	GRCh37
NC_000001.9:g.200972078G>C	NCBI36
NG_050659.1:g.78081C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006618.5:c.3150C>G MANE Select	NP_006609.3:p.Pro1050=
ENST00000367265.9:c.3150C>G MANE Select	ENSP00000356234.3:p.Pro1050=
NM_001314042.1:c.3258C>G	NP_001300971.1:p.Pro1086=
NM_001314042.2:c.3258C>G	NP_001300971.1:p.Pro1086=
NM_001347591.1:c.3015C>G	NP_001334520.1:p.Pro1005=
NM_001347591.2:c.3015C>G	NP_001334520.1:p.Pro1005=
NM_001399817.1:c.3135C>G	NP_001386746.1:p.Pro1045=
NM_006618.3:c.3150C>G	NP_006609.3:p.Pro1050=
NM_006618.4:c.3150C>G	NP_006609.3:p.Pro1050=
ENST00000235790.8:c.2676C>G	ENSP00000235790.4:p.Pro892=
ENST00000235790.9:c.2676C>G	ENSP00000235790.4:p.Pro892=
ENST00000367264.6:c.3258C>G	ENSP00000356233.2:p.Pro1086=
ENST00000367264.7:c.3258C>G	ENSP00000356233.2:p.Pro1086=
ENST00000367265.7:c.3150C>G	ENSP00000356234.3:p.Pro1050=
ENST00000498276.2:n.1236C>G
ENST00000647757.1:n.3036C>G
ENST00000648056.1:c.3135C>G	ENSP00000497113.1:p.Pro1045=
ENST00000648338.1:c.3150C>G	ENSP00000497564.1:p.Pro1050=
ENST00000648469.1:c.3027C>G	ENSP00000497827.1:p.Pro1009=
ENST00000648473.1:c.3150C>G	ENSP00000497743.1:p.Pro1050=
ENST00000649089.1:c.1194C>G
ENST00000649230.1:n.2376C>G
ENST00000649400.1:n.882C>G
ENST00000649542.1:n.3033C>G
ENST00000649770.1:c.3027C>G	ENSP00000497288.1:p.Pro1009=
ENST00000650417.1:c.*2576C>G	ENSP00000497297.1:n.*2576C>G
ENST00000650422.1:n.3433C>G
ENST00000650506.1:n.1326C>G
ENST00000650569.1:c.3015C>G	ENSP00000497671.1:p.Pro1005=
XM_011509087.1:c.3258C>G	XP_011507389.1:p.Pro1086=
XM_011509088.1:c.3015C>G	XP_011507390.1:p.Pro1005=
XM_011509089.1:c.3177C>G	XP_011507391.1:p.Pro1059=
XM_011509090.1:c.2784C>G	XP_011507392.1:p.Pro928=
XM_011509090.3:c.2784C>G	XP_011507392.1:p.Pro928=
XM_011509091.1:c.2784C>G	XP_011507393.1:p.Pro928=
XM_011509091.2:c.2784C>G	XP_011507393.1:p.Pro928=
XM_011509092.1:c.2676C>G	XP_011507394.1:p.Pro892=
XM_011509092.2:c.2676C>G	XP_011507394.1:p.Pro892=