Canonical Allele Identifier: CA120658
Gene: KDM5C HGNC NCBI

Linked Data

ClinVar Variation Id: 9778
dbSNP Id: rs199422239

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53218398C>T , CM000685.2:g.53218398C>T GRCh38
NC_000023.10:g.53247580C>T , CM000685.1:g.53247580C>T GRCh37
NC_000023.9:g.53264305C>T NCBI36
NG_008085.1:g.12025G>A
NG_008085.2:g.12025G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000465402.2:n.563G>A
ENST00000685423.1:c.229G>A ENSP00000508806.1:p.Ala77Thr
ENST00000685539.1:n.573G>A
ENST00000685641.1:c.229G>A ENSP00000509818.1:p.Ala77Thr
ENST00000687695.1:c.229G>A ENSP00000508631.1:p.Ala77Thr
ENST00000687928.1:n.499G>A
ENST00000688699.1:c.229G>A ENSP00000510430.1:p.Ala77Thr
ENST00000691505.1:c.229G>A ENSP00000510354.1:p.Ala77Thr
ENST00000693277.1:c.-267G>A ENSP00000510522.1:n.-267G>A
ENST00000375401.8:c.229G>A MANE Select ENSP00000364550.4:p.Ala77Thr
ENST00000375379.7:c.229G>A ENSP00000364528.3:p.Ala77Thr
ENST00000375383.7:c.229-432G>A ENSP00000364532.3:n.229-432G>A
ENST00000375401.7:c.229G>A ENSP00000364550.3:p.Ala77Thr
ENST00000404049.7:c.229G>A ENSP00000385394.3:p.Ala77Thr
ENST00000428012.1:c.*78G>A ENSP00000407277.1:n.*78G>A
ENST00000429877.5:c.*110G>A ENSP00000409757.1:n.*110G>A
ENST00000452825.7:c.151-432G>A ENSP00000445176.1:n.151-432G>A
ENST00000467093.1:n.210G>A
ENST00000495519.1:n.340G>A
NM_001146702.1:c.151-432G>A NP_001140174.1:n.151-432G>A
NM_001282622.1:c.229G>A NP_001269551.1:p.Ala77Thr
NM_004187.3:c.229G>A NP_004178.2:p.Ala77Thr
XM_005262035.3:c.229G>A XP_005262092.1:p.Ala77Thr
XM_006724609.2:c.229G>A XP_006724672.1:p.Ala77Thr
XM_011530824.1:c.229G>A XP_011529126.1:p.Ala77Thr
XM_011530825.1:c.229-432G>A XP_011529127.1:n.229-432G>A
XM_011530826.1:c.229-432G>A XP_011529128.1:n.229-432G>A
XM_011530827.1:c.229G>A XP_011529129.1:p.Ala77Thr
XM_011530828.1:c.229G>A XP_011529130.1:p.Ala77Thr
XM_011530829.1:c.-267G>A XP_011529131.1:n.-267G>A
XM_011530830.1:c.-267G>A XP_011529132.1:n.-267G>A
XR_938369.1:n.575G>A
XR_938370.1:n.575G>A
XR_938371.1:n.575G>A
XR_938372.1:n.575G>A
XR_938373.1:n.575G>A
NM_001353978.1:c.229G>A NP_001340907.1:p.Ala77Thr
NM_001353979.1:c.229G>A NP_001340908.1:p.Ala77Thr
NM_001353981.1:c.229G>A NP_001340910.1:p.Ala77Thr
NM_001353982.1:c.229G>A NP_001340911.1:p.Ala77Thr
NM_001353984.1:c.229G>A NP_001340913.1:p.Ala77Thr
NR_148672.1:n.762G>A
NR_148673.1:n.762G>A
NR_148674.1:n.762-432G>A
XM_011530824.3:c.229G>A XP_011529126.1:p.Ala77Thr
XM_011530825.3:c.229-432G>A XP_011529127.1:n.229-432G>A
XM_011530826.3:c.229-432G>A XP_011529128.1:n.229-432G>A
XM_011530827.3:c.229G>A XP_011529129.1:p.Ala77Thr
XM_011530828.2:c.229G>A XP_011529130.1:p.Ala77Thr
XM_011530829.2:c.-267G>A XP_011529131.1:n.-267G>A
XM_011530830.2:c.-267G>A XP_011529132.1:n.-267G>A
XM_024452466.1:c.229G>A XP_024308234.1:p.Ala77Thr
XR_001755735.2:n.555G>A
XR_001755736.2:n.555G>A
XR_001755737.2:n.555G>A
XR_938370.3:n.555G>A
NM_001146702.2:c.151-432G>A NP_001140174.1:n.151-432G>A
NM_001282622.3:c.229G>A NP_001269551.1:p.Ala77Thr
NM_001353978.3:c.229G>A NP_001340907.1:p.Ala77Thr
NM_001353979.2:c.229G>A NP_001340908.1:p.Ala77Thr
NM_001353981.2:c.229G>A NP_001340910.1:p.Ala77Thr
NM_001353982.2:c.229G>A NP_001340911.1:p.Ala77Thr
NM_004187.5:c.229G>A MANE Select NP_004178.2:p.Ala77Thr
NR_148672.2:n.547G>A
NR_148673.2:n.547G>A
NR_148674.2:n.547-432G>A
NM_001353984.2:c.229G>A NP_001340913.1:p.Ala77Thr