Canonical Allele Identifier: CA16043292
Gene: KDM5C HGNC NCBI

Linked Data

ClinVar Variation Id: 372737
dbSNP Id: rs1057517955

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53199128C>T , CM000685.2:g.53199128C>T GRCh38
NC_000023.10:g.53228310C>T , CM000685.1:g.53228310C>T GRCh37
NC_000023.9:g.53245035C>T NCBI36
NG_008085.1:g.31295G>A
NG_008085.2:g.31295G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000685423.1:c.2092G>A ENSP00000508806.1:p.Glu698Lys
ENST00000685641.1:c.2092G>A ENSP00000509818.1:p.Glu698Lys
ENST00000687695.1:c.2089G>A ENSP00000508631.1:p.Glu697Lys
ENST00000688699.1:c.2092G>A ENSP00000510430.1:p.Glu698Lys
ENST00000691505.1:c.2092G>A ENSP00000510354.1:p.Glu698Lys
ENST00000693277.1:c.1597G>A ENSP00000510522.1:p.Glu533Lys
ENST00000375401.8:c.2092G>A MANE Select ENSP00000364550.4:p.Glu698Lys
ENST00000375379.7:c.2092G>A ENSP00000364528.3:p.Glu698Lys
ENST00000375383.7:c.1969G>A ENSP00000364532.3:p.Glu657Lys
ENST00000375401.7:c.2092G>A ENSP00000364550.3:p.Glu698Lys
ENST00000404049.7:c.2089G>A ENSP00000385394.3:p.Glu697Lys
ENST00000452825.7:c.1891G>A ENSP00000445176.1:p.Glu631Lys
ENST00000497100.5:n.853G>A
NM_001146702.1:c.1891G>A NP_001140174.1:p.Glu631Lys
NM_001282622.1:c.2089G>A NP_001269551.1:p.Glu697Lys
NM_004187.3:c.2092G>A NP_004178.2:p.Glu698Lys
XM_005262035.3:c.2092G>A XP_005262092.1:p.Glu698Lys
XM_006724609.2:c.2092G>A XP_006724672.1:p.Glu698Lys
XM_011530824.1:c.2092G>A XP_011529126.1:p.Glu698Lys
XM_011530825.1:c.1969G>A XP_011529127.1:p.Glu657Lys
XM_011530826.1:c.1969G>A XP_011529128.1:p.Glu657Lys
XM_011530827.1:c.2092G>A XP_011529129.1:p.Glu698Lys
XM_011530828.1:c.2092G>A XP_011529130.1:p.Glu698Lys
XM_011530829.1:c.1597G>A XP_011529131.1:p.Glu533Lys
XM_011530830.1:c.1597G>A XP_011529132.1:p.Glu533Lys
XM_011530831.1:c.1108G>A XP_011529133.1:p.Glu370Lys
XR_938369.1:n.2438G>A
XR_938370.1:n.2438G>A
XR_938371.1:n.2438G>A
XR_938372.1:n.2438G>A
XR_938373.1:n.2438G>A
NM_001353978.1:c.2092G>A NP_001340907.1:p.Glu698Lys
NM_001353979.1:c.2089G>A NP_001340908.1:p.Glu697Lys
NM_001353981.1:c.2092G>A NP_001340910.1:p.Glu698Lys
NM_001353982.1:c.2089G>A NP_001340911.1:p.Glu697Lys
NM_001353984.1:c.2092G>A NP_001340913.1:p.Glu698Lys
NR_148672.1:n.2625G>A
NR_148673.1:n.2622G>A
NR_148674.1:n.2502G>A
XM_011530824.3:c.2092G>A XP_011529126.1:p.Glu698Lys
XM_011530825.3:c.1969G>A XP_011529127.1:p.Glu657Lys
XM_011530826.3:c.1969G>A XP_011529128.1:p.Glu657Lys
XM_011530827.3:c.2092G>A XP_011529129.1:p.Glu698Lys
XM_011530828.2:c.2092G>A XP_011529130.1:p.Glu698Lys
XM_011530829.2:c.1597G>A XP_011529131.1:p.Glu533Lys
XM_011530830.2:c.1597G>A XP_011529132.1:p.Glu533Lys
XM_011530831.2:c.1108G>A XP_011529133.1:p.Glu370Lys
XM_024452466.1:c.2089G>A XP_024308234.1:p.Glu697Lys
XR_001755735.2:n.2418G>A
XR_001755736.2:n.2418G>A
XR_001755737.2:n.2418G>A
XR_938370.3:n.2418G>A
NM_001146702.2:c.1891G>A NP_001140174.1:p.Glu631Lys
NM_001282622.3:c.2089G>A NP_001269551.1:p.Glu697Lys
NM_001353978.3:c.2092G>A NP_001340907.1:p.Glu698Lys
NM_001353979.2:c.2089G>A NP_001340908.1:p.Glu697Lys
NM_001353981.2:c.2092G>A NP_001340910.1:p.Glu698Lys
NM_001353982.2:c.2089G>A NP_001340911.1:p.Glu697Lys
NM_004187.5:c.2092G>A MANE Select NP_004178.2:p.Glu698Lys
NR_148672.2:n.2410G>A
NR_148673.2:n.2407G>A
NR_148674.2:n.2287G>A
NM_001353984.2:c.2092G>A NP_001340913.1:p.Glu698Lys