Canonical Allele Identifier: CA516673104
Gene: KDM5C HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.53245281G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53216099G>T , CM000685.2:g.53216099G>T GRCh38
NC_000023.10:g.53245281G>T , CM000685.1:g.53245281G>T GRCh37
NC_000023.9:g.53262006G>T NCBI36
NG_008085.1:g.14324C>A
NG_008085.2:g.14324C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000465402.2:n.1087C>A
ENST00000685423.1:c.756C>A ENSP00000508806.1:p.Ala252=
ENST00000685539.1:n.1100C>A
ENST00000685641.1:c.756C>A ENSP00000509818.1:p.Ala252=
ENST00000687695.1:c.753C>A ENSP00000508631.1:p.Ala251=
ENST00000687928.1:n.1026C>A
ENST00000688699.1:c.756C>A ENSP00000510430.1:p.Ala252=
ENST00000691505.1:c.756C>A ENSP00000510354.1:p.Ala252=
ENST00000693277.1:c.261C>A ENSP00000510522.1:p.Ala87=
ENST00000375401.8:c.756C>A MANE Select ENSP00000364550.4:p.Ala252=
ENST00000375379.7:c.756C>A ENSP00000364528.3:p.Ala252=
ENST00000375383.7:c.633C>A ENSP00000364532.3:p.Ala211=
ENST00000375401.7:c.756C>A ENSP00000364550.3:p.Ala252=
ENST00000404049.7:c.753C>A ENSP00000385394.3:p.Ala251=
ENST00000452825.7:c.555C>A ENSP00000445176.1:p.Ala185=
ENST00000497995.1:n.106C>A
NM_001146702.1:c.555C>A NP_001140174.1:p.Ala185=
NM_001282622.1:c.753C>A NP_001269551.1:p.Ala251=
NM_004187.3:c.756C>A NP_004178.2:p.Ala252=
XM_005262035.3:c.756C>A XP_005262092.1:p.Ala252=
XM_006724609.2:c.756C>A XP_006724672.1:p.Ala252=
XM_011530824.1:c.756C>A XP_011529126.1:p.Ala252=
XM_011530825.1:c.633C>A XP_011529127.1:p.Ala211=
XM_011530826.1:c.633C>A XP_011529128.1:p.Ala211=
XM_011530827.1:c.756C>A XP_011529129.1:p.Ala252=
XM_011530828.1:c.756C>A XP_011529130.1:p.Ala252=
XM_011530829.1:c.261C>A XP_011529131.1:p.Ala87=
XM_011530830.1:c.261C>A XP_011529132.1:p.Ala87=
XR_938369.1:n.1102C>A
XR_938370.1:n.1102C>A
XR_938371.1:n.1102C>A
XR_938372.1:n.1102C>A
XR_938373.1:n.1102C>A
NM_001353978.1:c.756C>A NP_001340907.1:p.Ala252=
NM_001353979.1:c.753C>A NP_001340908.1:p.Ala251=
NM_001353981.1:c.756C>A NP_001340910.1:p.Ala252=
NM_001353982.1:c.753C>A NP_001340911.1:p.Ala251=
NM_001353984.1:c.756C>A NP_001340913.1:p.Ala252=
NR_148672.1:n.1289C>A
NR_148673.1:n.1286C>A
NR_148674.1:n.1166C>A
XM_011530824.3:c.756C>A XP_011529126.1:p.Ala252=
XM_011530825.3:c.633C>A XP_011529127.1:p.Ala211=
XM_011530826.3:c.633C>A XP_011529128.1:p.Ala211=
XM_011530827.3:c.756C>A XP_011529129.1:p.Ala252=
XM_011530828.2:c.756C>A XP_011529130.1:p.Ala252=
XM_011530829.2:c.261C>A XP_011529131.1:p.Ala87=
XM_011530830.2:c.261C>A XP_011529132.1:p.Ala87=
XM_024452466.1:c.753C>A XP_024308234.1:p.Ala251=
XR_001755735.2:n.1082C>A
XR_001755736.2:n.1082C>A
XR_001755737.2:n.1082C>A
XR_938370.3:n.1082C>A
NM_001146702.2:c.555C>A NP_001140174.1:p.Ala185=
NM_001282622.3:c.753C>A NP_001269551.1:p.Ala251=
NM_001353978.3:c.756C>A NP_001340907.1:p.Ala252=
NM_001353979.2:c.753C>A NP_001340908.1:p.Ala251=
NM_001353981.2:c.756C>A NP_001340910.1:p.Ala252=
NM_001353982.2:c.753C>A NP_001340911.1:p.Ala251=
NM_004187.5:c.756C>A MANE Select NP_004178.2:p.Ala252=
NR_148672.2:n.1074C>A
NR_148673.2:n.1071C>A
NR_148674.2:n.951C>A
NM_001353984.2:c.756C>A NP_001340913.1:p.Ala252=