Canonical Allele Identifier: CA16621433
Gene: KDM5C HGNC NCBI

Linked Data

ClinVar Variation Id: 420838
ClinVar RCV Id: RCV000480561
dbSNP Id: rs1064794733
gnomAD v4: X-53199082-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53199082G>A , CM000685.2:g.53199082G>A GRCh38
NC_000023.10:g.53228264G>A , CM000685.1:g.53228264G>A GRCh37
NC_000023.9:g.53244989G>A NCBI36
NG_008085.1:g.31341C>T
NG_008085.2:g.31341C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000685423.1:c.2138C>T ENSP00000508806.1:p.Thr713Met
ENST00000685641.1:c.2138C>T ENSP00000509818.1:p.Thr713Met
ENST00000687695.1:c.2135C>T ENSP00000508631.1:p.Thr712Met
ENST00000688699.1:c.2138C>T ENSP00000510430.1:p.Thr713Met
ENST00000691505.1:c.2138C>T ENSP00000510354.1:p.Thr713Met
ENST00000693277.1:c.1643C>T ENSP00000510522.1:p.Thr548Met
ENST00000375401.8:c.2138C>T MANE Select ENSP00000364550.4:p.Thr713Met
ENST00000375379.7:c.2138C>T ENSP00000364528.3:p.Thr713Met
ENST00000375383.7:c.2015C>T ENSP00000364532.3:p.Thr672Met
ENST00000375401.7:c.2138C>T ENSP00000364550.3:p.Thr713Met
ENST00000404049.7:c.2135C>T ENSP00000385394.3:p.Thr712Met
ENST00000452825.7:c.1937C>T ENSP00000445176.1:p.Thr646Met
ENST00000497100.5:n.899C>T
NM_001146702.1:c.1937C>T NP_001140174.1:p.Thr646Met
NM_001282622.1:c.2135C>T NP_001269551.1:p.Thr712Met
NM_004187.3:c.2138C>T NP_004178.2:p.Thr713Met
XM_005262035.3:c.2138C>T XP_005262092.1:p.Thr713Met
XM_006724609.2:c.2138C>T XP_006724672.1:p.Thr713Met
XM_011530824.1:c.2138C>T XP_011529126.1:p.Thr713Met
XM_011530825.1:c.2015C>T XP_011529127.1:p.Thr672Met
XM_011530826.1:c.2015C>T XP_011529128.1:p.Thr672Met
XM_011530827.1:c.2138C>T XP_011529129.1:p.Thr713Met
XM_011530828.1:c.2138C>T XP_011529130.1:p.Thr713Met
XM_011530829.1:c.1643C>T XP_011529131.1:p.Thr548Met
XM_011530830.1:c.1643C>T XP_011529132.1:p.Thr548Met
XM_011530831.1:c.1154C>T XP_011529133.1:p.Thr385Met
XR_938369.1:n.2484C>T
XR_938370.1:n.2484C>T
XR_938371.1:n.2484C>T
XR_938372.1:n.2484C>T
XR_938373.1:n.2484C>T
NM_001353978.1:c.2138C>T NP_001340907.1:p.Thr713Met
NM_001353979.1:c.2135C>T NP_001340908.1:p.Thr712Met
NM_001353981.1:c.2138C>T NP_001340910.1:p.Thr713Met
NM_001353982.1:c.2135C>T NP_001340911.1:p.Thr712Met
NM_001353984.1:c.2138C>T NP_001340913.1:p.Thr713Met
NR_148672.1:n.2671C>T
NR_148673.1:n.2668C>T
NR_148674.1:n.2548C>T
XM_011530824.3:c.2138C>T XP_011529126.1:p.Thr713Met
XM_011530825.3:c.2015C>T XP_011529127.1:p.Thr672Met
XM_011530826.3:c.2015C>T XP_011529128.1:p.Thr672Met
XM_011530827.3:c.2138C>T XP_011529129.1:p.Thr713Met
XM_011530828.2:c.2138C>T XP_011529130.1:p.Thr713Met
XM_011530829.2:c.1643C>T XP_011529131.1:p.Thr548Met
XM_011530830.2:c.1643C>T XP_011529132.1:p.Thr548Met
XM_011530831.2:c.1154C>T XP_011529133.1:p.Thr385Met
XM_024452466.1:c.2135C>T XP_024308234.1:p.Thr712Met
XR_001755735.2:n.2464C>T
XR_001755736.2:n.2464C>T
XR_001755737.2:n.2464C>T
XR_938370.3:n.2464C>T
NM_001146702.2:c.1937C>T NP_001140174.1:p.Thr646Met
NM_001282622.3:c.2135C>T NP_001269551.1:p.Thr712Met
NM_001353978.3:c.2138C>T NP_001340907.1:p.Thr713Met
NM_001353979.2:c.2135C>T NP_001340908.1:p.Thr712Met
NM_001353981.2:c.2138C>T NP_001340910.1:p.Thr713Met
NM_001353982.2:c.2135C>T NP_001340911.1:p.Thr712Met
NM_004187.5:c.2138C>T MANE Select NP_004178.2:p.Thr713Met
NR_148672.2:n.2456C>T
NR_148673.2:n.2453C>T
NR_148674.2:n.2333C>T
NM_001353984.2:c.2138C>T NP_001340913.1:p.Thr713Met