Canonical Allele Identifier: CA16603344
Gene: KDM5C HGNC NCBI

Linked Data

ClinVar Variation Id: 377331
ClinVar RCV Id: RCV000420674
dbSNP Id: rs1057520198

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53220843A>G , CM000685.2:g.53220843A>G GRCh38
NC_000023.10:g.53250025A>G , CM000685.1:g.53250025A>G GRCh37
NC_000023.9:g.53266750A>G NCBI36
NG_008085.1:g.9580T>C
NG_008085.2:g.9580T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000465402.2:n.558T>C
ENST00000685423.1:c.224T>C ENSP00000508806.1:p.Leu75Pro
ENST00000685539.1:n.568T>C
ENST00000685641.1:c.224T>C ENSP00000509818.1:p.Leu75Pro
ENST00000687695.1:c.224T>C ENSP00000508631.1:p.Leu75Pro
ENST00000687928.1:n.494T>C
ENST00000688699.1:c.224T>C ENSP00000510430.1:p.Leu75Pro
ENST00000691505.1:c.224T>C ENSP00000510354.1:p.Leu75Pro
ENST00000693277.1:c.-272T>C ENSP00000510522.1:n.-272T>C
ENST00000375401.8:c.224T>C MANE Select ENSP00000364550.4:p.Leu75Pro
ENST00000375379.7:c.224T>C ENSP00000364528.3:p.Leu75Pro
ENST00000375383.7:c.224T>C ENSP00000364532.3:p.Leu75Pro
ENST00000375401.7:c.224T>C ENSP00000364550.3:p.Leu75Pro
ENST00000404049.7:c.224T>C ENSP00000385394.3:p.Leu75Pro
ENST00000428012.1:c.224T>C ENSP00000407277.1:p.Leu75Pro
ENST00000429877.5:c.*105T>C ENSP00000409757.1:n.*105T>C
ENST00000452825.7:c.151-2877T>C ENSP00000445176.1:n.151-2877T>C
ENST00000467093.1:n.205T>C
NM_001146702.1:c.151-2877T>C NP_001140174.1:n.151-2877T>C
NM_001282622.1:c.224T>C NP_001269551.1:p.Leu75Pro
NM_004187.3:c.224T>C NP_004178.2:p.Leu75Pro
XM_005262035.3:c.224T>C XP_005262092.1:p.Leu75Pro
XM_006724609.2:c.224T>C XP_006724672.1:p.Leu75Pro
XM_011530824.1:c.224T>C XP_011529126.1:p.Leu75Pro
XM_011530825.1:c.224T>C XP_011529127.1:p.Leu75Pro
XM_011530826.1:c.224T>C XP_011529128.1:p.Leu75Pro
XM_011530827.1:c.224T>C XP_011529129.1:p.Leu75Pro
XM_011530828.1:c.224T>C XP_011529130.1:p.Leu75Pro
XM_011530829.1:c.-272T>C XP_011529131.1:n.-272T>C
XM_011530830.1:c.-272T>C XP_011529132.1:n.-272T>C
XR_938369.1:n.570T>C
XR_938370.1:n.570T>C
XR_938371.1:n.570T>C
XR_938372.1:n.570T>C
XR_938373.1:n.570T>C
NM_001353978.1:c.224T>C NP_001340907.1:p.Leu75Pro
NM_001353979.1:c.224T>C NP_001340908.1:p.Leu75Pro
NM_001353981.1:c.224T>C NP_001340910.1:p.Leu75Pro
NM_001353982.1:c.224T>C NP_001340911.1:p.Leu75Pro
NM_001353984.1:c.224T>C NP_001340913.1:p.Leu75Pro
NR_148672.1:n.757T>C
NR_148673.1:n.757T>C
NR_148674.1:n.757T>C
XM_011530824.3:c.224T>C XP_011529126.1:p.Leu75Pro
XM_011530825.3:c.224T>C XP_011529127.1:p.Leu75Pro
XM_011530826.3:c.224T>C XP_011529128.1:p.Leu75Pro
XM_011530827.3:c.224T>C XP_011529129.1:p.Leu75Pro
XM_011530828.2:c.224T>C XP_011529130.1:p.Leu75Pro
XM_011530829.2:c.-272T>C XP_011529131.1:n.-272T>C
XM_011530830.2:c.-272T>C XP_011529132.1:n.-272T>C
XM_024452466.1:c.224T>C XP_024308234.1:p.Leu75Pro
XR_001755735.2:n.550T>C
XR_001755736.2:n.550T>C
XR_001755737.2:n.550T>C
XR_938370.3:n.550T>C
NM_001146702.2:c.151-2877T>C NP_001140174.1:n.151-2877T>C
NM_001282622.3:c.224T>C NP_001269551.1:p.Leu75Pro
NM_001353978.3:c.224T>C NP_001340907.1:p.Leu75Pro
NM_001353979.2:c.224T>C NP_001340908.1:p.Leu75Pro
NM_001353981.2:c.224T>C NP_001340910.1:p.Leu75Pro
NM_001353982.2:c.224T>C NP_001340911.1:p.Leu75Pro
NM_004187.5:c.224T>C MANE Select NP_004178.2:p.Leu75Pro
NR_148672.2:n.542T>C
NR_148673.2:n.542T>C
NR_148674.2:n.542T>C
NM_001353984.2:c.224T>C NP_001340913.1:p.Leu75Pro