Canonical Allele Identifier: CA2573051468
Community Standard Title: NM_006618.5(KDM5B):c.204+5G>C
Gene: KDM5B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.202808097C>G , CM000663.2:g.202808097C>G GRCh38
NC_000001.10:g.202777225C>G , CM000663.1:g.202777225C>G GRCh37
NC_000001.9:g.201043848C>G NCBI36
NG_050659.1:g.6311G>C

Transcript Alleles

HGVS Amino-acid Change
NM_006618.5:c.204+5G>C MANE Select NP_006609.3:n.204+5G>C
ENST00000367265.9:c.204+5G>C MANE Select ENSP00000356234.3:n.204+5G>C
NM_001314042.1:c.204+5G>C NP_001300971.1:n.204+5G>C
NM_001314042.2:c.204+5G>C NP_001300971.1:n.204+5G>C
NM_001347591.1:c.204+5G>C NP_001334520.1:n.204+5G>C
NM_001347591.2:c.204+5G>C NP_001334520.1:n.204+5G>C
NM_001399817.1:c.189+20G>C NP_001386746.1:n.189+20G>C
NM_006618.3:c.204+5G>C NP_006609.3:n.204+5G>C
NM_006618.4:c.204+5G>C NP_006609.3:n.204+5G>C
ENST00000367264.6:c.204+5G>C ENSP00000356233.2:n.204+5G>C
ENST00000367264.7:c.204+5G>C ENSP00000356233.2:n.204+5G>C
ENST00000367265.7:c.204+5G>C ENSP00000356234.3:n.204+5G>C
ENST00000602511.1:c.24+5G>C ENSP00000473481.1:n.24+5G>C
ENST00000648056.1:c.189+20G>C ENSP00000497113.1:n.189+20G>C
ENST00000648338.1:c.204+5G>C ENSP00000497564.1:n.204+5G>C
ENST00000648354.1:c.115+5G>C
ENST00000648469.1:c.204+5G>C ENSP00000497827.1:n.204+5G>C
ENST00000648473.1:c.204+5G>C ENSP00000497743.1:n.204+5G>C
ENST00000648738.1:c.13+5G>C
ENST00000648958.1:n.332+5G>C
ENST00000649200.1:c.204+5G>C ENSP00000497898.1:n.204+5G>C
ENST00000649770.1:c.204+5G>C ENSP00000497288.1:n.204+5G>C
ENST00000650368.1:c.204+5G>C ENSP00000497042.1:n.204+5G>C
ENST00000650417.1:c.204+5G>C ENSP00000497297.1:n.204+5G>C
ENST00000650493.1:c.204+5G>C ENSP00000497862.1:n.204+5G>C
ENST00000650569.1:c.204+5G>C ENSP00000497671.1:n.204+5G>C
XM_011509087.1:c.204+5G>C XP_011507389.1:n.204+5G>C
XM_011509088.1:c.204+5G>C XP_011507390.1:n.204+5G>C