Canonical Allele Identifier: CA1334640
Community Standard Title: NM_006618.5(KDM5B):c.1708C>T (p.Arg570Ter)
Gene: KDM5B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.202750772G>A , CM000663.2:g.202750772G>A GRCh38
NC_000001.10:g.202719900G>A , CM000663.1:g.202719900G>A GRCh37
NC_000001.9:g.200986523G>A NCBI36
NG_050659.1:g.63636C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006618.5:c.1708C>T MANE Select NP_006609.3:p.Arg570Ter
ENST00000367265.9:c.1708C>T MANE Select ENSP00000356234.3:p.Arg570Ter
NM_001314042.1:c.1816C>T NP_001300971.1:p.Arg606Ter
NM_001314042.2:c.1816C>T NP_001300971.1:p.Arg606Ter
NM_001347591.1:c.1573C>T NP_001334520.1:p.Arg525Ter
NM_001347591.2:c.1573C>T NP_001334520.1:p.Arg525Ter
NM_001399817.1:c.1693C>T NP_001386746.1:p.Arg565Ter
NM_006618.3:c.1708C>T NP_006609.3:p.Arg570Ter
NM_006618.4:c.1708C>T NP_006609.3:p.Arg570Ter
ENST00000235790.8:c.1234C>T ENSP00000235790.4:p.Arg412Ter
ENST00000235790.9:c.1234C>T ENSP00000235790.4:p.Arg412Ter
ENST00000367264.6:c.1816C>T ENSP00000356233.2:p.Arg606Ter
ENST00000367264.7:c.1816C>T ENSP00000356233.2:p.Arg606Ter
ENST00000367265.7:c.1708C>T ENSP00000356234.3:p.Arg570Ter
ENST00000647754.1:n.1445C>T
ENST00000647757.1:n.1594C>T
ENST00000648056.1:c.1693C>T ENSP00000497113.1:p.Arg565Ter
ENST00000648338.1:c.1708C>T ENSP00000497564.1:p.Arg570Ter
ENST00000648469.1:c.1585C>T ENSP00000497827.1:p.Arg529Ter
ENST00000648473.1:c.1708C>T ENSP00000497743.1:p.Arg570Ter
ENST00000649542.1:n.1591C>T
ENST00000649770.1:c.1585C>T ENSP00000497288.1:p.Arg529Ter
ENST00000649929.1:c.270C>T
ENST00000650417.1:c.*1134C>T ENSP00000497297.1:n.*1134C>T
ENST00000650422.1:n.1991C>T
ENST00000650569.1:c.1573C>T ENSP00000497671.1:p.Arg525Ter
XM_011509087.1:c.1816C>T XP_011507389.1:p.Arg606Ter
XM_011509088.1:c.1573C>T XP_011507390.1:p.Arg525Ter
XM_011509089.1:c.1735C>T XP_011507391.1:p.Arg579Ter
XM_011509090.1:c.1342C>T XP_011507392.1:p.Arg448Ter
XM_011509090.3:c.1342C>T XP_011507392.1:p.Arg448Ter
XM_011509091.1:c.1342C>T XP_011507393.1:p.Arg448Ter
XM_011509091.2:c.1342C>T XP_011507393.1:p.Arg448Ter
XM_011509092.1:c.1234C>T XP_011507394.1:p.Arg412Ter
XM_011509092.2:c.1234C>T XP_011507394.1:p.Arg412Ter