Canonical Allele Identifier: CA414840021
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706075T>C , CM000686.2:g.19706075T>C GRCh38
NC_000024.9:g.21867961T>C , CM000686.1:g.21867961T>C GRCh37
NC_000024.8:g.20327349T>C NCBI36
NG_032920.1:g.43865A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4540A>G MANE Select ENSP00000322408.4:p.Lys1514Glu
ENST00000317961.8:c.4540A>G ENSP00000322408.4:p.Lys1514Glu
ENST00000382806.6:c.4369A>G ENSP00000372256.2:p.Lys1457Glu
ENST00000440077.5:c.4417A>G ENSP00000398543.1:p.Lys1473Glu
ENST00000469599.6:n.3291A>G
ENST00000492117.1:n.4585A>G
ENST00000541639.5:c.4633A>G ENSP00000444293.1:p.Lys1545Glu
NM_001146705.1:c.4633A>G NP_001140177.1:p.Lys1545Glu
NM_001146706.1:c.4369A>G NP_001140178.1:p.Lys1457Glu
NM_004653.4:c.4540A>G NP_004644.2:p.Lys1514Glu
XM_005262560.1:c.4405A>G XP_005262617.1:p.Lys1469Glu
XM_005262561.1:c.4309A>G XP_005262618.1:p.Lys1437Glu
XM_011531468.1:c.4462A>G XP_011529770.1:p.Lys1488Glu
XR_430568.2:n.5315A>G
XM_005262560.3:c.4405A>G XP_005262617.1:p.Lys1469Glu
XM_005262561.3:c.4309A>G XP_005262618.1:p.Lys1437Glu
XM_011531468.3:c.4462A>G XP_011529770.1:p.Lys1488Glu
XM_024452495.1:c.2530A>G XP_024308263.1:p.Lys844Glu
XM_024452496.1:c.2296A>G XP_024308264.1:p.Lys766Glu
XR_001756009.2:n.5278A>G
XR_001756010.2:n.5246A>G
XR_001756011.2:n.5143A>G
XR_001756012.2:n.5291A>G
XR_001756013.2:n.4609A>G
XR_002958832.1:n.4863A>G
XR_002958834.1:n.4934A>G
XR_002958835.1:n.4817A>G
XR_002958836.1:n.5468A>G
XR_002958837.1:n.5275A>G
XR_244571.4:n.4795A>G
XR_430568.4:n.5314A>G
NM_001146706.2:c.4369A>G NP_001140178.1:p.Lys1457Glu
NM_004653.5:c.4540A>G MANE Select NP_004644.2:p.Lys1514Glu
NM_001146705.2:c.4633A>G NP_001140177.1:p.Lys1545Glu