Canonical Allele Identifier: CA414839737
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19705997A>C , CM000686.2:g.19705997A>C GRCh38
NC_000024.9:g.21867883A>C , CM000686.1:g.21867883A>C GRCh37
NC_000024.8:g.20327271A>C NCBI36
NG_032920.1:g.43943T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000317961.9:c.4618T>G MANE Select ENSP00000322408.4:p.Ter1540Gly
ENST00000317961.8:c.4618T>G ENSP00000322408.4:p.Ter1540Gly
ENST00000382806.6:c.4447T>G ENSP00000372256.2:p.Ter1483Gly
ENST00000469599.6:n.3369T>G
ENST00000492117.1:n.4663T>G
ENST00000541639.5:c.4711T>G ENSP00000444293.1:p.Ter1571Gly
NM_001146705.1:c.4711T>G NP_001140177.1:p.Ter1571Gly
NM_001146706.1:c.4447T>G NP_001140178.1:p.Ter1483Gly
NM_004653.4:c.4618T>G NP_004644.2:p.Ter1540Gly
XM_005262560.1:c.4483T>G XP_005262617.1:p.Ter1495Gly
XM_005262561.1:c.4387T>G XP_005262618.1:p.Ter1463Gly
XM_011531468.1:c.4540T>G XP_011529770.1:p.Ter1514Gly
XR_430568.2:n.5393T>G
XM_005262560.3:c.4483T>G XP_005262617.1:p.Ter1495Gly
XM_005262561.3:c.4387T>G XP_005262618.1:p.Ter1463Gly
XM_011531468.3:c.4540T>G XP_011529770.1:p.Ter1514Gly
XM_024452495.1:c.2608T>G XP_024308263.1:p.Ter870Gly
XM_024452496.1:c.2374T>G XP_024308264.1:p.Ter792Gly
XR_001756009.2:n.5356T>G
XR_001756010.2:n.5324T>G
XR_001756011.2:n.5221T>G
XR_001756012.2:n.5369T>G
XR_001756013.2:n.4687T>G
XR_002958832.1:n.4941T>G
XR_002958834.1:n.5012T>G
XR_002958835.1:n.4895T>G
XR_002958836.1:n.5546T>G
XR_002958837.1:n.5353T>G
XR_244571.4:n.4873T>G
XR_430568.4:n.5392T>G
NM_001146706.2:c.4447T>G NP_001140178.1:p.Ter1483Gly
NM_004653.5:c.4618T>G MANE Select NP_004644.2:p.Ter1540Gly
NM_001146705.2:c.4711T>G NP_001140177.1:p.Ter1571Gly