Canonical Allele Identifier: CA2429757685
Community Standard Title: NM_004187.5(KDM5C):c.3118C= (p.Gln1040=)
Gene: KDM5C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53195918G= , CM000685.2:g.53195918G= GRCh38
NC_000023.10:g.53225100G= , CM000685.1:g.53225100G= GRCh37
NC_000023.9:g.53241825G= NCBI36
NG_008085.1:g.34505C=
NG_008085.2:g.34505C=

Transcript Alleles

HGVS Amino-acid Change
NM_004187.5:c.3118C= MANE Select NP_004178.2:p.Gln1040=
ENST00000375401.8:c.3118C= MANE Select ENSP00000364550.4:p.Gln1040=
NM_001146702.1:c.2917C= NP_001140174.1:p.Gln973=
NM_001146702.2:c.2917C= NP_001140174.1:p.Gln973=
NM_001282622.1:c.3115C= NP_001269551.1:p.Gln1039=
NM_001282622.3:c.3115C= NP_001269551.1:p.Gln1039=
NM_001353978.1:c.3118C= NP_001340907.1:p.Gln1040=
NM_001353978.3:c.3118C= NP_001340907.1:p.Gln1040=
NM_001353979.1:c.3115C= NP_001340908.1:p.Gln1039=
NM_001353979.2:c.3115C= NP_001340908.1:p.Gln1039=
NM_001353981.1:c.3118C= NP_001340910.1:p.Gln1040=
NM_001353981.2:c.3118C= NP_001340910.1:p.Gln1040=
NM_001353982.1:c.3115C= NP_001340911.1:p.Gln1039=
NM_001353982.2:c.3115C= NP_001340911.1:p.Gln1039=
NM_001353984.1:c.3118C= NP_001340913.1:p.Gln1040=
NM_001353984.2:c.3118C= NP_001340913.1:p.Gln1040=
NM_004187.3:c.3118C= NP_004178.2:p.Gln1040=
NR_148672.1:n.3651C=
NR_148672.2:n.3436C=
NR_148673.1:n.3648C=
NR_148673.2:n.3433C=
NR_148674.1:n.3528C=
NR_148674.2:n.3313C=
ENST00000375379.7:c.3118C= ENSP00000364528.3:p.Gln1040=
ENST00000375383.7:c.2995C= ENSP00000364532.3:p.Gln999=
ENST00000375401.7:c.3118C= ENSP00000364550.3:p.Gln1040=
ENST00000404049.7:c.3115C= ENSP00000385394.3:p.Gln1039=
ENST00000452825.7:c.2917C= ENSP00000445176.1:p.Gln973=
ENST00000685423.1:c.3118C= ENSP00000508806.1:p.Gln1040=
ENST00000685641.1:c.3118C= ENSP00000509818.1:p.Gln1040=
ENST00000687695.1:c.3115C= ENSP00000508631.1:p.Gln1039=
ENST00000688699.1:c.3118C= ENSP00000510430.1:p.Gln1040=
ENST00000691505.1:c.3118C= ENSP00000510354.1:p.Gln1040=
ENST00000693277.1:c.2623C= ENSP00000510522.1:p.Gln875=
XM_005262035.3:c.3118C= XP_005262092.1:p.Gln1040=
XM_006724609.2:c.3118C= XP_006724672.1:p.Gln1040=
XM_011530824.1:c.3118C= XP_011529126.1:p.Gln1040=
XM_011530824.3:c.3118C= XP_011529126.1:p.Gln1040=
XM_011530825.1:c.2995C= XP_011529127.1:p.Gln999=
XM_011530825.3:c.2995C= XP_011529127.1:p.Gln999=
XM_011530826.1:c.2995C= XP_011529128.1:p.Gln999=
XM_011530826.3:c.2995C= XP_011529128.1:p.Gln999=
XM_011530827.1:c.3118C= XP_011529129.1:p.Gln1040=
XM_011530827.3:c.3118C= XP_011529129.1:p.Gln1040=
XM_011530828.1:c.3118C= XP_011529130.1:p.Gln1040=
XM_011530828.2:c.3118C= XP_011529130.1:p.Gln1040=
XM_011530829.1:c.2623C= XP_011529131.1:p.Gln875=
XM_011530829.2:c.2623C= XP_011529131.1:p.Gln875=
XM_011530830.1:c.2623C= XP_011529132.1:p.Gln875=
XM_011530830.2:c.2623C= XP_011529132.1:p.Gln875=
XM_011530831.1:c.2134C= XP_011529133.1:p.Gln712=
XM_011530831.2:c.2134C= XP_011529133.1:p.Gln712=
XM_024452466.1:c.3115C= XP_024308234.1:p.Gln1039=
XR_001755735.2:n.3444C=
XR_001755736.2:n.3444C=
XR_001755737.2:n.3444C=
XR_938369.1:n.3464C=
XR_938370.1:n.3464C=
XR_938370.3:n.3444C=
XR_938371.1:n.3464C=
XR_938372.1:n.3464C=
XR_938373.1:n.3464C=