Canonical Allele Identifier: CA414844275
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707947T>C , CM000686.2:g.19707947T>C GRCh38
NC_000024.9:g.21869833T>C , CM000686.1:g.21869833T>C GRCh37
NC_000024.8:g.20329221T>C NCBI36
NG_032920.1:g.41993A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3386A>G MANE Select ENSP00000322408.4:p.Asp1129Gly
ENST00000317961.8:c.3386A>G ENSP00000322408.4:p.Asp1129Gly
ENST00000382806.6:c.3215A>G ENSP00000372256.2:p.Asp1072Gly
ENST00000415360.1:c.302A>G ENSP00000389433.1:p.Asp101Gly
ENST00000440077.5:c.3263A>G ENSP00000398543.1:p.Asp1088Gly
ENST00000469599.6:n.1984A>G
ENST00000492117.1:n.3278A>G
ENST00000541639.5:c.3479A>G ENSP00000444293.1:p.Asp1160Gly
NM_001146705.1:c.3479A>G NP_001140177.1:p.Asp1160Gly
NM_001146706.1:c.3215A>G NP_001140178.1:p.Asp1072Gly
NM_004653.4:c.3386A>G NP_004644.2:p.Asp1129Gly
XM_005262560.1:c.3251A>G XP_005262617.1:p.Asp1084Gly
XM_005262561.1:c.3155A>G XP_005262618.1:p.Asp1052Gly
XM_011531468.1:c.3308A>G XP_011529770.1:p.Asp1103Gly
XR_244571.2:n.3674A>G
XR_430568.2:n.4008A>G
XM_005262560.3:c.3251A>G XP_005262617.1:p.Asp1084Gly
XM_005262561.3:c.3155A>G XP_005262618.1:p.Asp1052Gly
XM_011531468.3:c.3308A>G XP_011529770.1:p.Asp1103Gly
XM_024452495.1:c.1376A>G XP_024308263.1:p.Asp459Gly
XM_024452496.1:c.1142A>G XP_024308264.1:p.Asp381Gly
XR_001756009.2:n.4124A>G
XR_001756010.2:n.4124A>G
XR_001756011.2:n.3989A>G
XR_001756012.2:n.4137A>G
XR_001756013.2:n.3455A>G
XR_002958832.1:n.3556A>G
XR_002958834.1:n.3780A>G
XR_002958835.1:n.3663A>G
XR_002958836.1:n.4346A>G
XR_002958837.1:n.4153A>G
XR_244571.4:n.3673A>G
XR_430568.4:n.4007A>G
NM_001146706.2:c.3215A>G NP_001140178.1:p.Asp1072Gly
NM_004653.5:c.3386A>G MANE Select NP_004644.2:p.Asp1129Gly
NM_001146705.2:c.3479A>G NP_001140177.1:p.Asp1160Gly