Canonical Allele Identifier: CA414840006
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706071T>G , CM000686.2:g.19706071T>G GRCh38
NC_000024.9:g.21867957T>G , CM000686.1:g.21867957T>G GRCh37
NC_000024.8:g.20327345T>G NCBI36
NG_032920.1:g.43869A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4544A>C MANE Select ENSP00000322408.4:p.Asp1515Ala
ENST00000317961.8:c.4544A>C ENSP00000322408.4:p.Asp1515Ala
ENST00000382806.6:c.4373A>C ENSP00000372256.2:p.Asp1458Ala
ENST00000440077.5:c.4421A>C ENSP00000398543.1:p.Asp1474Ala
ENST00000469599.6:n.3295A>C
ENST00000492117.1:n.4589A>C
ENST00000541639.5:c.4637A>C ENSP00000444293.1:p.Asp1546Ala
NM_001146705.1:c.4637A>C NP_001140177.1:p.Asp1546Ala
NM_001146706.1:c.4373A>C NP_001140178.1:p.Asp1458Ala
NM_004653.4:c.4544A>C NP_004644.2:p.Asp1515Ala
XM_005262560.1:c.4409A>C XP_005262617.1:p.Asp1470Ala
XM_005262561.1:c.4313A>C XP_005262618.1:p.Asp1438Ala
XM_011531468.1:c.4466A>C XP_011529770.1:p.Asp1489Ala
XR_430568.2:n.5319A>C
XM_005262560.3:c.4409A>C XP_005262617.1:p.Asp1470Ala
XM_005262561.3:c.4313A>C XP_005262618.1:p.Asp1438Ala
XM_011531468.3:c.4466A>C XP_011529770.1:p.Asp1489Ala
XM_024452495.1:c.2534A>C XP_024308263.1:p.Asp845Ala
XM_024452496.1:c.2300A>C XP_024308264.1:p.Asp767Ala
XR_001756009.2:n.5282A>C
XR_001756010.2:n.5250A>C
XR_001756011.2:n.5147A>C
XR_001756012.2:n.5295A>C
XR_001756013.2:n.4613A>C
XR_002958832.1:n.4867A>C
XR_002958834.1:n.4938A>C
XR_002958835.1:n.4821A>C
XR_002958836.1:n.5472A>C
XR_002958837.1:n.5279A>C
XR_244571.4:n.4799A>C
XR_430568.4:n.5318A>C
NM_001146706.2:c.4373A>C NP_001140178.1:p.Asp1458Ala
NM_004653.5:c.4544A>C MANE Select NP_004644.2:p.Asp1515Ala
NM_001146705.2:c.4637A>C NP_001140177.1:p.Asp1546Ala