Canonical Allele Identifier: CA344270590

Gene: KDM5B

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.202755348C>A , CM000663.2:g.202755348C>A	GRCh38
NC_000001.10:g.202724476C>A , CM000663.1:g.202724476C>A	GRCh37
NC_000001.9:g.200991099C>A	NCBI36
NG_050659.1:g.59060G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006618.5:c.1461G>T MANE Select	NP_006609.3:p.Leu487Phe
ENST00000367265.9:c.1461G>T MANE Select	ENSP00000356234.3:p.Leu487Phe
NM_001314042.1:c.1569G>T	NP_001300971.1:p.Leu523Phe
NM_001314042.2:c.1569G>T	NP_001300971.1:p.Leu523Phe
NM_001347591.1:c.1326G>T	NP_001334520.1:p.Leu442Phe
NM_001347591.2:c.1326G>T	NP_001334520.1:p.Leu442Phe
NM_001399817.1:c.1446G>T	NP_001386746.1:p.Leu482Phe
NM_006618.3:c.1461G>T	NP_006609.3:p.Leu487Phe
NM_006618.4:c.1461G>T	NP_006609.3:p.Leu487Phe
ENST00000235790.8:c.987G>T	ENSP00000235790.4:p.Leu329Phe
ENST00000235790.9:c.987G>T	ENSP00000235790.4:p.Leu329Phe
ENST00000367264.6:c.1569G>T	ENSP00000356233.2:p.Leu523Phe
ENST00000367264.7:c.1569G>T	ENSP00000356233.2:p.Leu523Phe
ENST00000367265.7:c.1461G>T	ENSP00000356234.3:p.Leu487Phe
ENST00000456180.1:n.457G>T
ENST00000456180.2:n.460G>T
ENST00000647754.1:n.1198G>T
ENST00000647757.1:n.1347G>T
ENST00000648056.1:c.1446G>T	ENSP00000497113.1:p.Leu482Phe
ENST00000648338.1:c.1461G>T	ENSP00000497564.1:p.Leu487Phe
ENST00000648469.1:c.1338G>T	ENSP00000497827.1:p.Leu446Phe
ENST00000648473.1:c.1461G>T	ENSP00000497743.1:p.Leu487Phe
ENST00000649321.1:n.790G>T
ENST00000649542.1:n.1344G>T
ENST00000649770.1:c.1338G>T	ENSP00000497288.1:p.Leu446Phe
ENST00000649929.1:c.23G>T
ENST00000650417.1:c.*887G>T	ENSP00000497297.1:n.*887G>T
ENST00000650422.1:n.1744G>T
ENST00000650569.1:c.1326G>T	ENSP00000497671.1:p.Leu442Phe
XM_011509087.1:c.1569G>T	XP_011507389.1:p.Leu523Phe
XM_011509088.1:c.1326G>T	XP_011507390.1:p.Leu442Phe
XM_011509089.1:c.1488G>T	XP_011507391.1:p.Leu496Phe
XM_011509090.1:c.1095G>T	XP_011507392.1:p.Leu365Phe
XM_011509090.3:c.1095G>T	XP_011507392.1:p.Leu365Phe
XM_011509091.1:c.1095G>T	XP_011507393.1:p.Leu365Phe
XM_011509091.2:c.1095G>T	XP_011507393.1:p.Leu365Phe
XM_011509092.1:c.987G>T	XP_011507394.1:p.Leu329Phe
XM_011509092.2:c.987G>T	XP_011507394.1:p.Leu329Phe