Canonical Allele Identifier: CA120653
Gene: KDM5C HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 9775
ClinVar RCV Id: RCV000010429
dbSNP Id: rs199422236

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53199140G>A , CM000685.2:g.53199140G>A GRCh38
NC_000023.10:g.53228322G>A , CM000685.1:g.53228322G>A GRCh37
NC_000023.9:g.53245047G>A NCBI36
NG_008085.1:g.31283C>T
NG_008085.2:g.31283C>T

Transcript Alleles

HGVS Amino-acid change
NM_001146702.1:c.1879C>T VV NP_001140174.1:p.Arg627Ter
NM_001282622.1:c.2077C>T VV NP_001269551.1:p.Arg693Ter
NM_004187.3:c.2080C>T VV NP_004178.2:p.Arg694Ter
XM_005262035.3:c.2080C>T XP_005262092.1:p.Arg694Ter
XM_006724609.2:c.2080C>T XP_006724672.1:p.Arg694Ter
XM_011530824.1:c.2080C>T XP_011529126.1:p.Arg694Ter
XM_011530825.1:c.1957C>T XP_011529127.1:p.Arg653Ter
XM_011530826.1:c.1957C>T XP_011529128.1:p.Arg653Ter
XM_011530827.1:c.2080C>T XP_011529129.1:p.Arg694Ter
XM_011530828.1:c.2080C>T XP_011529130.1:p.Arg694Ter
XM_011530829.1:c.1585C>T XP_011529131.1:p.Arg529Ter
XM_011530830.1:c.1585C>T XP_011529132.1:p.Arg529Ter
XM_011530831.1:c.1096C>T XP_011529133.1:p.Arg366Ter
XR_938369.1:n.2426C>T
XR_938370.1:n.2426C>T
XR_938371.1:n.2426C>T
XR_938372.1:n.2426C>T
XR_938373.1:n.2426C>T
NM_001353978.1:c.2080C>T VV NP_001340907.1:p.Arg694Ter
NM_001353979.1:c.2077C>T VV NP_001340908.1:p.Arg693Ter
NM_001353981.1:c.2080C>T VV NP_001340910.1:p.Arg694Ter
NM_001353982.1:c.2077C>T VV NP_001340911.1:p.Arg693Ter
NM_001353984.1:c.2080C>T VV NP_001340913.1:p.Arg694Ter
NR_148672.1:n.2613C>T
NR_148673.1:n.2610C>T
NR_148674.1:n.2490C>T
XM_011530824.3:c.2080C>T
XM_011530825.3:c.1957C>T
XM_011530826.3:c.1957C>T
XM_011530827.3:c.2080C>T
XM_011530828.2:c.2080C>T
XM_011530829.2:c.1585C>T
XM_011530830.2:c.1585C>T
XM_011530831.2:c.1096C>T
XM_024452466.1:c.2077C>T XP_024308234.1:p.Arg693Ter
XR_001755735.2:n.2406C>T
XR_001755736.2:n.2406C>T
XR_001755737.2:n.2406C>T
XR_938370.3:n.2406C>T
ENST00000375379.7:c.2080C>T ENSP00000364528.3:p.Arg694Ter
ENST00000375383.7:c.1957C>T ENSP00000364532.3:p.Arg653Ter
ENST00000375401.7:c.2080C>T ENSP00000364550.3:p.Arg694Ter
ENST00000404049.7:c.2077C>T ENSP00000385394.3:p.Arg693Ter
ENST00000452825.7:c.1879C>T ENSP00000445176.1:p.Arg627Ter
ENST00000497100.5:n.841C>T