Canonical Allele Identifier: CA160274

Gene: KDM5C

Linked Data

• ClinVar Variation Id: 134589
• ClinVar RCV Id: RCV000121279 ; RCV000766707
• dbSNP Id: rs797044473
• MyVariant Identifiers: chrX:g.53223329T>C (hg19) ; chrX:g.53194147T>C (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53194147T>C , CM000685.2:g.53194147T>C	GRCh38
NC_000023.10:g.53223329T>C , CM000685.1:g.53223329T>C	GRCh37
NC_000023.9:g.53240054T>C	NCBI36
NG_008085.1:g.36276A>G
NG_008085.2:g.36276A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685423.1:c.4030A>G	ENSP00000508806.1:p.Met1344Val
ENST00000685641.1:c.4030A>G	ENSP00000509818.1:p.Met1344Val
ENST00000687695.1:c.4027A>G	ENSP00000508631.1:p.Met1343Val
ENST00000688699.1:c.4030A>G	ENSP00000510430.1:p.Met1344Val
ENST00000691505.1:c.4030A>G	ENSP00000510354.1:p.Met1344Val
ENST00000693277.1:c.3535A>G	ENSP00000510522.1:p.Met1179Val
ENST00000375401.8:c.4030A>G MANE Select	ENSP00000364550.4:p.Met1344Val
ENST00000375379.7:c.4030A>G	ENSP00000364528.3:p.Met1344Val
ENST00000375383.7:c.3907A>G	ENSP00000364532.3:p.Met1303Val
ENST00000375401.7:c.4030A>G	ENSP00000364550.3:p.Met1344Val
ENST00000404049.7:c.4027A>G	ENSP00000385394.3:p.Met1343Val
ENST00000452825.7:c.3829A>G	ENSP00000445176.1:p.Met1277Val
NM_001146702.1:c.3829A>G	NP_001140174.1:p.Met1277Val
NM_001282622.1:c.4027A>G	NP_001269551.1:p.Met1343Val
NM_004187.3:c.4030A>G	NP_004178.2:p.Met1344Val
XM_005262035.3:c.4030A>G	XP_005262092.1:p.Met1344Val
XM_006724609.2:c.4030A>G	XP_006724672.1:p.Met1344Val
XM_011530824.1:c.3952A>G	XP_011529126.1:p.Met1318Val
XM_011530825.1:c.3907A>G	XP_011529127.1:p.Met1303Val
XM_011530826.1:c.3907A>G	XP_011529128.1:p.Met1303Val
XM_011530827.1:c.4030A>G	XP_011529129.1:p.Met1344Val
XM_011530828.1:c.4030A>G	XP_011529130.1:p.Met1344Val
XM_011530829.1:c.3535A>G	XP_011529131.1:p.Met1179Val
XM_011530830.1:c.3535A>G	XP_011529132.1:p.Met1179Val
XM_011530831.1:c.3046A>G	XP_011529133.1:p.Met1016Val
XR_938369.1:n.4376A>G
XR_938370.1:n.4376A>G
XR_938371.1:n.4376A>G
XR_938372.1:n.4376A>G
XR_938373.1:n.4376A>G
NM_001353978.1:c.4030A>G	NP_001340907.1:p.Met1344Val
NM_001353979.1:c.4027A>G	NP_001340908.1:p.Met1343Val
NM_001353981.1:c.4030A>G	NP_001340910.1:p.Met1344Val
NM_001353982.1:c.4027A>G	NP_001340911.1:p.Met1343Val
NM_001353984.1:c.4030A>G	NP_001340913.1:p.Met1344Val
NR_148672.1:n.4563A>G
NR_148673.1:n.4560A>G
NR_148674.1:n.4440A>G
XM_011530824.3:c.3952A>G	XP_011529126.1:p.Met1318Val
XM_011530825.3:c.3907A>G	XP_011529127.1:p.Met1303Val
XM_011530826.3:c.3907A>G	XP_011529128.1:p.Met1303Val
XM_011530827.3:c.4030A>G	XP_011529129.1:p.Met1344Val
XM_011530828.2:c.4030A>G	XP_011529130.1:p.Met1344Val
XM_011530829.2:c.3535A>G	XP_011529131.1:p.Met1179Val
XM_011530830.2:c.3535A>G	XP_011529132.1:p.Met1179Val
XM_011530831.2:c.3046A>G	XP_011529133.1:p.Met1016Val
XM_024452466.1:c.4027A>G	XP_024308234.1:p.Met1343Val
XR_001755735.2:n.4356A>G
XR_001755736.2:n.4356A>G
XR_001755737.2:n.4356A>G
XR_938370.3:n.4356A>G
NM_001146702.2:c.3829A>G	NP_001140174.1:p.Met1277Val
NM_001282622.3:c.4027A>G	NP_001269551.1:p.Met1343Val
NM_001353978.3:c.4030A>G	NP_001340907.1:p.Met1344Val
NM_001353979.2:c.4027A>G	NP_001340908.1:p.Met1343Val
NM_001353981.2:c.4030A>G	NP_001340910.1:p.Met1344Val
NM_001353982.2:c.4027A>G	NP_001340911.1:p.Met1343Val
NM_004187.5:c.4030A>G MANE Select	NP_004178.2:p.Met1344Val
NR_148672.2:n.4348A>G
NR_148673.2:n.4345A>G
NR_148674.2:n.4225A>G
NM_001353984.2:c.4030A>G	NP_001340913.1:p.Met1344Val