Canonical Allele Identifier: CA414840360
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706159T>G , CM000686.2:g.19706159T>G GRCh38
NC_000024.9:g.21868045T>G , CM000686.1:g.21868045T>G GRCh37
NC_000024.8:g.20327433T>G NCBI36
NG_032920.1:g.43781A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4456A>C MANE Select ENSP00000322408.4:p.Lys1486Gln
ENST00000317961.8:c.4456A>C ENSP00000322408.4:p.Lys1486Gln
ENST00000382806.6:c.4285A>C ENSP00000372256.2:p.Lys1429Gln
ENST00000440077.5:c.4333A>C ENSP00000398543.1:p.Lys1445Gln
ENST00000469599.6:n.3207A>C
ENST00000492117.1:n.4501A>C
ENST00000541639.5:c.4549A>C ENSP00000444293.1:p.Lys1517Gln
NM_001146705.1:c.4549A>C NP_001140177.1:p.Lys1517Gln
NM_001146706.1:c.4285A>C NP_001140178.1:p.Lys1429Gln
NM_004653.4:c.4456A>C NP_004644.2:p.Lys1486Gln
XM_005262560.1:c.4321A>C XP_005262617.1:p.Lys1441Gln
XM_005262561.1:c.4225A>C XP_005262618.1:p.Lys1409Gln
XM_011531468.1:c.4378A>C XP_011529770.1:p.Lys1460Gln
XR_430568.2:n.5231A>C
XM_005262560.3:c.4321A>C XP_005262617.1:p.Lys1441Gln
XM_005262561.3:c.4225A>C XP_005262618.1:p.Lys1409Gln
XM_011531468.3:c.4378A>C XP_011529770.1:p.Lys1460Gln
XM_024452495.1:c.2446A>C XP_024308263.1:p.Lys816Gln
XM_024452496.1:c.2212A>C XP_024308264.1:p.Lys738Gln
XR_001756009.2:n.5194A>C
XR_001756010.2:n.5162A>C
XR_001756011.2:n.5059A>C
XR_001756012.2:n.5207A>C
XR_001756013.2:n.4525A>C
XR_002958832.1:n.4779A>C
XR_002958834.1:n.4850A>C
XR_002958835.1:n.4733A>C
XR_002958836.1:n.5384A>C
XR_002958837.1:n.5191A>C
XR_244571.4:n.4711A>C
XR_430568.4:n.5230A>C
NM_001146706.2:c.4285A>C NP_001140178.1:p.Lys1429Gln
NM_004653.5:c.4456A>C MANE Select NP_004644.2:p.Lys1486Gln
NM_001146705.2:c.4549A>C NP_001140177.1:p.Lys1517Gln