Canonical Allele Identifier: CA1334004

Gene: KDM5B

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.202730015G>A , CM000663.2:g.202730015G>A	GRCh38
NC_000001.10:g.202699143G>A , CM000663.1:g.202699143G>A	GRCh37
NC_000001.9:g.200965766G>A	NCBI36
NG_050659.1:g.84393C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006618.5:c.4189C>T MANE Select	NP_006609.3:p.Arg1397Ter
ENST00000367265.9:c.4189C>T MANE Select	ENSP00000356234.3:p.Arg1397Ter
NM_001314042.1:c.4297C>T	NP_001300971.1:p.Arg1433Ter
NM_001314042.2:c.4297C>T	NP_001300971.1:p.Arg1433Ter
NM_001347591.1:c.4054C>T	NP_001334520.1:p.Arg1352Ter
NM_001347591.2:c.4054C>T	NP_001334520.1:p.Arg1352Ter
NM_001399817.1:c.4174C>T	NP_001386746.1:p.Arg1392Ter
NM_006618.3:c.4189C>T	NP_006609.3:p.Arg1397Ter
NM_006618.4:c.4189C>T	NP_006609.3:p.Arg1397Ter
ENST00000235790.8:c.3715C>T	ENSP00000235790.4:p.Arg1239Ter
ENST00000235790.9:c.3715C>T	ENSP00000235790.4:p.Arg1239Ter
ENST00000367264.6:c.4297C>T	ENSP00000356233.2:p.Arg1433Ter
ENST00000367264.7:c.4297C>T	ENSP00000356233.2:p.Arg1433Ter
ENST00000367265.7:c.4189C>T	ENSP00000356234.3:p.Arg1397Ter
ENST00000472822.5:n.949C>T
ENST00000472822.6:n.1195C>T
ENST00000491153.1:n.482C>T
ENST00000491153.2:n.1161C>T
ENST00000498276.2:n.2275C>T
ENST00000647657.1:n.1152C>T
ENST00000647747.1:n.1188C>T
ENST00000647757.1:n.4075C>T
ENST00000648056.1:c.4174C>T	ENSP00000497113.1:p.Arg1392Ter
ENST00000648338.1:c.4189C>T	ENSP00000497564.1:p.Arg1397Ter
ENST00000648469.1:c.4066C>T	ENSP00000497827.1:p.Arg1356Ter
ENST00000648473.1:c.4189C>T	ENSP00000497743.1:p.Arg1397Ter
ENST00000649089.1:c.2233C>T
ENST00000649230.1:n.3415C>T
ENST00000649339.1:n.530C>T
ENST00000649400.1:n.2685C>T
ENST00000649542.1:n.4072C>T
ENST00000649770.1:c.4066C>T	ENSP00000497288.1:p.Arg1356Ter
ENST00000650417.1:c.*3615C>T	ENSP00000497297.1:n.*3615C>T
ENST00000650506.1:n.3826C>T
ENST00000650569.1:c.4054C>T	ENSP00000497671.1:p.Arg1352Ter
XM_011509087.1:c.4297C>T	XP_011507389.1:p.Arg1433Ter
XM_011509088.1:c.4054C>T	XP_011507390.1:p.Arg1352Ter
XM_011509089.1:c.4216C>T	XP_011507391.1:p.Arg1406Ter
XM_011509090.1:c.3823C>T	XP_011507392.1:p.Arg1275Ter
XM_011509090.3:c.3823C>T	XP_011507392.1:p.Arg1275Ter
XM_011509091.1:c.3823C>T	XP_011507393.1:p.Arg1275Ter
XM_011509091.2:c.3823C>T	XP_011507393.1:p.Arg1275Ter
XM_011509092.1:c.3715C>T	XP_011507394.1:p.Arg1239Ter
XM_011509092.2:c.3715C>T	XP_011507394.1:p.Arg1239Ter