Canonical Allele Identifier: CA414840354
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706158T>G , CM000686.2:g.19706158T>G GRCh38
NC_000024.9:g.21868044T>G , CM000686.1:g.21868044T>G GRCh37
NC_000024.8:g.20327432T>G NCBI36
NG_032920.1:g.43782A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4457A>C MANE Select ENSP00000322408.4:p.Lys1486Thr
ENST00000317961.8:c.4457A>C ENSP00000322408.4:p.Lys1486Thr
ENST00000382806.6:c.4286A>C ENSP00000372256.2:p.Lys1429Thr
ENST00000440077.5:c.4334A>C ENSP00000398543.1:p.Lys1445Thr
ENST00000469599.6:n.3208A>C
ENST00000492117.1:n.4502A>C
ENST00000541639.5:c.4550A>C ENSP00000444293.1:p.Lys1517Thr
NM_001146705.1:c.4550A>C NP_001140177.1:p.Lys1517Thr
NM_001146706.1:c.4286A>C NP_001140178.1:p.Lys1429Thr
NM_004653.4:c.4457A>C NP_004644.2:p.Lys1486Thr
XM_005262560.1:c.4322A>C XP_005262617.1:p.Lys1441Thr
XM_005262561.1:c.4226A>C XP_005262618.1:p.Lys1409Thr
XM_011531468.1:c.4379A>C XP_011529770.1:p.Lys1460Thr
XR_430568.2:n.5232A>C
XM_005262560.3:c.4322A>C XP_005262617.1:p.Lys1441Thr
XM_005262561.3:c.4226A>C XP_005262618.1:p.Lys1409Thr
XM_011531468.3:c.4379A>C XP_011529770.1:p.Lys1460Thr
XM_024452495.1:c.2447A>C XP_024308263.1:p.Lys816Thr
XM_024452496.1:c.2213A>C XP_024308264.1:p.Lys738Thr
XR_001756009.2:n.5195A>C
XR_001756010.2:n.5163A>C
XR_001756011.2:n.5060A>C
XR_001756012.2:n.5208A>C
XR_001756013.2:n.4526A>C
XR_002958832.1:n.4780A>C
XR_002958834.1:n.4851A>C
XR_002958835.1:n.4734A>C
XR_002958836.1:n.5385A>C
XR_002958837.1:n.5192A>C
XR_244571.4:n.4712A>C
XR_430568.4:n.5231A>C
NM_001146706.2:c.4286A>C NP_001140178.1:p.Lys1429Thr
NM_004653.5:c.4457A>C MANE Select NP_004644.2:p.Lys1486Thr
NM_001146705.2:c.4550A>C NP_001140177.1:p.Lys1517Thr