Canonical Allele Identifier: CA413111014

Gene: KDM5C

Linked Data

• ClinVar Variation Id: 2576524
• ClinVar RCV Id: RCV003322583
• dbSNP Id: rs782406365
• COSMIC: COSM4110038 ; COSM4110039 ; COSM4110040
• MyVariant Identifiers: chrX:g.53225096A>G (hg19) ; chrX:g.53195914A>G (hg38)
• MutSpliceDB: CA413111014

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53195914A>G , CM000685.2:g.53195914A>G	GRCh38
NC_000023.10:g.53225096A>G , CM000685.1:g.53225096A>G	GRCh37
NC_000023.9:g.53241821A>G	NCBI36
NG_008085.1:g.34509T>C
NG_008085.2:g.34509T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685423.1:c.3120+2T>C	ENSP00000508806.1:n.3120+2T>C
ENST00000685641.1:c.3120+2T>C	ENSP00000509818.1:n.3120+2T>C
ENST00000687695.1:c.3117+2T>C	ENSP00000508631.1:n.3117+2T>C
ENST00000688699.1:c.3120+2T>C	ENSP00000510430.1:n.3120+2T>C
ENST00000691505.1:c.3120+2T>C	ENSP00000510354.1:n.3120+2T>C
ENST00000693277.1:c.2625+2T>C	ENSP00000510522.1:n.2625+2T>C
ENST00000375401.8:c.3120+2T>C MANE Select	ENSP00000364550.4:n.3120+2T>C
ENST00000375379.7:c.3120+2T>C	ENSP00000364528.3:n.3120+2T>C
ENST00000375383.7:c.2997+2T>C	ENSP00000364532.3:n.2997+2T>C
ENST00000375401.7:c.3120+2T>C	ENSP00000364550.3:n.3120+2T>C
ENST00000404049.7:c.3117+2T>C	ENSP00000385394.3:n.3117+2T>C
ENST00000452825.7:c.2919+2T>C	ENSP00000445176.1:n.2919+2T>C
NM_001146702.1:c.2919+2T>C	NP_001140174.1:n.2919+2T>C
NM_001282622.1:c.3117+2T>C	NP_001269551.1:n.3117+2T>C
NM_004187.3:c.3120+2T>C	NP_004178.2:n.3120+2T>C
XM_005262035.3:c.3120+2T>C	XP_005262092.1:n.3120+2T>C
XM_006724609.2:c.3120+2T>C	XP_006724672.1:n.3120+2T>C
XM_011530824.1:c.3120+2T>C	XP_011529126.1:n.3120+2T>C
XM_011530825.1:c.2997+2T>C	XP_011529127.1:n.2997+2T>C
XM_011530826.1:c.2997+2T>C	XP_011529128.1:n.2997+2T>C
XM_011530827.1:c.3120+2T>C	XP_011529129.1:n.3120+2T>C
XM_011530828.1:c.3120+2T>C	XP_011529130.1:n.3120+2T>C
XM_011530829.1:c.2625+2T>C	XP_011529131.1:n.2625+2T>C
XM_011530830.1:c.2625+2T>C	XP_011529132.1:n.2625+2T>C
XM_011530831.1:c.2136+2T>C	XP_011529133.1:n.2136+2T>C
XR_938369.1:n.3466+2T>C
XR_938370.1:n.3466+2T>C
XR_938371.1:n.3466+2T>C
XR_938372.1:n.3466+2T>C
XR_938373.1:n.3466+2T>C
NM_001353978.1:c.3120+2T>C	NP_001340907.1:n.3120+2T>C
NM_001353979.1:c.3117+2T>C	NP_001340908.1:n.3117+2T>C
NM_001353981.1:c.3120+2T>C	NP_001340910.1:n.3120+2T>C
NM_001353982.1:c.3117+2T>C	NP_001340911.1:n.3117+2T>C
NM_001353984.1:c.3120+2T>C	NP_001340913.1:n.3120+2T>C
NR_148672.1:n.3653+2T>C
NR_148673.1:n.3650+2T>C
NR_148674.1:n.3530+2T>C
XM_011530824.3:c.3120+2T>C	XP_011529126.1:n.3120+2T>C
XM_011530825.3:c.2997+2T>C	XP_011529127.1:n.2997+2T>C
XM_011530826.3:c.2997+2T>C	XP_011529128.1:n.2997+2T>C
XM_011530827.3:c.3120+2T>C	XP_011529129.1:n.3120+2T>C
XM_011530828.2:c.3120+2T>C	XP_011529130.1:n.3120+2T>C
XM_011530829.2:c.2625+2T>C	XP_011529131.1:n.2625+2T>C
XM_011530830.2:c.2625+2T>C	XP_011529132.1:n.2625+2T>C
XM_011530831.2:c.2136+2T>C	XP_011529133.1:n.2136+2T>C
XM_024452466.1:c.3117+2T>C	XP_024308234.1:n.3117+2T>C
XR_001755735.2:n.3446+2T>C
XR_001755736.2:n.3446+2T>C
XR_001755737.2:n.3446+2T>C
XR_938370.3:n.3446+2T>C
NM_001146702.2:c.2919+2T>C	NP_001140174.1:n.2919+2T>C
NM_001282622.3:c.3117+2T>C	NP_001269551.1:n.3117+2T>C
NM_001353978.3:c.3120+2T>C	NP_001340907.1:n.3120+2T>C
NM_001353979.2:c.3117+2T>C	NP_001340908.1:n.3117+2T>C
NM_001353981.2:c.3120+2T>C	NP_001340910.1:n.3120+2T>C
NM_001353982.2:c.3117+2T>C	NP_001340911.1:n.3117+2T>C
NM_004187.5:c.3120+2T>C MANE Select	NP_004178.2:n.3120+2T>C
NR_148672.2:n.3438+2T>C
NR_148673.2:n.3435+2T>C
NR_148674.2:n.3315+2T>C
NM_001353984.2:c.3120+2T>C	NP_001340913.1:n.3120+2T>C