Canonical Allele Identifier: CA413133403

Gene: KDM5C

Linked Data

• ClinVar Variation Id: 1313276
• ClinVar RCV Id: RCV001769227
• dbSNP Id: rs2146941083
• MyVariant Identifiers: chrX:g.53245282G>C (hg19) ; chrX:g.53216100G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53216100G>C , CM000685.2:g.53216100G>C	GRCh38
NC_000023.10:g.53245282G>C , CM000685.1:g.53245282G>C	GRCh37
NC_000023.9:g.53262007G>C	NCBI36
NG_008085.1:g.14323C>G
NG_008085.2:g.14323C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465402.2:n.1086C>G
ENST00000685423.1:c.755C>G	ENSP00000508806.1:p.Ala252Gly
ENST00000685539.1:n.1099C>G
ENST00000685641.1:c.755C>G	ENSP00000509818.1:p.Ala252Gly
ENST00000687695.1:c.752C>G	ENSP00000508631.1:p.Ala251Gly
ENST00000687928.1:n.1025C>G
ENST00000688699.1:c.755C>G	ENSP00000510430.1:p.Ala252Gly
ENST00000691505.1:c.755C>G	ENSP00000510354.1:p.Ala252Gly
ENST00000693277.1:c.260C>G	ENSP00000510522.1:p.Ala87Gly
ENST00000375401.8:c.755C>G MANE Select	ENSP00000364550.4:p.Ala252Gly
ENST00000375379.7:c.755C>G	ENSP00000364528.3:p.Ala252Gly
ENST00000375383.7:c.632C>G	ENSP00000364532.3:p.Ala211Gly
ENST00000375401.7:c.755C>G	ENSP00000364550.3:p.Ala252Gly
ENST00000404049.7:c.752C>G	ENSP00000385394.3:p.Ala251Gly
ENST00000452825.7:c.554C>G	ENSP00000445176.1:p.Ala185Gly
ENST00000497995.1:n.105C>G
NM_001146702.1:c.554C>G	NP_001140174.1:p.Ala185Gly
NM_001282622.1:c.752C>G	NP_001269551.1:p.Ala251Gly
NM_004187.3:c.755C>G	NP_004178.2:p.Ala252Gly
XM_005262035.3:c.755C>G	XP_005262092.1:p.Ala252Gly
XM_006724609.2:c.755C>G	XP_006724672.1:p.Ala252Gly
XM_011530824.1:c.755C>G	XP_011529126.1:p.Ala252Gly
XM_011530825.1:c.632C>G	XP_011529127.1:p.Ala211Gly
XM_011530826.1:c.632C>G	XP_011529128.1:p.Ala211Gly
XM_011530827.1:c.755C>G	XP_011529129.1:p.Ala252Gly
XM_011530828.1:c.755C>G	XP_011529130.1:p.Ala252Gly
XM_011530829.1:c.260C>G	XP_011529131.1:p.Ala87Gly
XM_011530830.1:c.260C>G	XP_011529132.1:p.Ala87Gly
XR_938369.1:n.1101C>G
XR_938370.1:n.1101C>G
XR_938371.1:n.1101C>G
XR_938372.1:n.1101C>G
XR_938373.1:n.1101C>G
NM_001353978.1:c.755C>G	NP_001340907.1:p.Ala252Gly
NM_001353979.1:c.752C>G	NP_001340908.1:p.Ala251Gly
NM_001353981.1:c.755C>G	NP_001340910.1:p.Ala252Gly
NM_001353982.1:c.752C>G	NP_001340911.1:p.Ala251Gly
NM_001353984.1:c.755C>G	NP_001340913.1:p.Ala252Gly
NR_148672.1:n.1288C>G
NR_148673.1:n.1285C>G
NR_148674.1:n.1165C>G
XM_011530824.3:c.755C>G	XP_011529126.1:p.Ala252Gly
XM_011530825.3:c.632C>G	XP_011529127.1:p.Ala211Gly
XM_011530826.3:c.632C>G	XP_011529128.1:p.Ala211Gly
XM_011530827.3:c.755C>G	XP_011529129.1:p.Ala252Gly
XM_011530828.2:c.755C>G	XP_011529130.1:p.Ala252Gly
XM_011530829.2:c.260C>G	XP_011529131.1:p.Ala87Gly
XM_011530830.2:c.260C>G	XP_011529132.1:p.Ala87Gly
XM_024452466.1:c.752C>G	XP_024308234.1:p.Ala251Gly
XR_001755735.2:n.1081C>G
XR_001755736.2:n.1081C>G
XR_001755737.2:n.1081C>G
XR_938370.3:n.1081C>G
NM_001146702.2:c.554C>G	NP_001140174.1:p.Ala185Gly
NM_001282622.3:c.752C>G	NP_001269551.1:p.Ala251Gly
NM_001353978.3:c.755C>G	NP_001340907.1:p.Ala252Gly
NM_001353979.2:c.752C>G	NP_001340908.1:p.Ala251Gly
NM_001353981.2:c.755C>G	NP_001340910.1:p.Ala252Gly
NM_001353982.2:c.752C>G	NP_001340911.1:p.Ala251Gly
NM_004187.5:c.755C>G MANE Select	NP_004178.2:p.Ala252Gly
NR_148672.2:n.1073C>G
NR_148673.2:n.1070C>G
NR_148674.2:n.950C>G
NM_001353984.2:c.755C>G	NP_001340913.1:p.Ala252Gly