Canonical Allele Identifier: CA414840094
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706090T>G , CM000686.2:g.19706090T>G GRCh38
NC_000024.9:g.21867976T>G , CM000686.1:g.21867976T>G GRCh37
NC_000024.8:g.20327364T>G NCBI36
NG_032920.1:g.43850A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4525A>C MANE Select ENSP00000322408.4:p.Asn1509His
ENST00000317961.8:c.4525A>C ENSP00000322408.4:p.Asn1509His
ENST00000382806.6:c.4354A>C ENSP00000372256.2:p.Asn1452His
ENST00000440077.5:c.4402A>C ENSP00000398543.1:p.Asn1468His
ENST00000469599.6:n.3276A>C
ENST00000492117.1:n.4570A>C
ENST00000541639.5:c.4618A>C ENSP00000444293.1:p.Asn1540His
NM_001146705.1:c.4618A>C NP_001140177.1:p.Asn1540His
NM_001146706.1:c.4354A>C NP_001140178.1:p.Asn1452His
NM_004653.4:c.4525A>C NP_004644.2:p.Asn1509His
XM_005262560.1:c.4390A>C XP_005262617.1:p.Asn1464His
XM_005262561.1:c.4294A>C XP_005262618.1:p.Asn1432His
XM_011531468.1:c.4447A>C XP_011529770.1:p.Asn1483His
XR_430568.2:n.5300A>C
XM_005262560.3:c.4390A>C XP_005262617.1:p.Asn1464His
XM_005262561.3:c.4294A>C XP_005262618.1:p.Asn1432His
XM_011531468.3:c.4447A>C XP_011529770.1:p.Asn1483His
XM_024452495.1:c.2515A>C XP_024308263.1:p.Asn839His
XM_024452496.1:c.2281A>C XP_024308264.1:p.Asn761His
XR_001756009.2:n.5263A>C
XR_001756010.2:n.5231A>C
XR_001756011.2:n.5128A>C
XR_001756012.2:n.5276A>C
XR_001756013.2:n.4594A>C
XR_002958832.1:n.4848A>C
XR_002958834.1:n.4919A>C
XR_002958835.1:n.4802A>C
XR_002958836.1:n.5453A>C
XR_002958837.1:n.5260A>C
XR_244571.4:n.4780A>C
XR_430568.4:n.5299A>C
NM_001146706.2:c.4354A>C NP_001140178.1:p.Asn1452His
NM_004653.5:c.4525A>C MANE Select NP_004644.2:p.Asn1509His
NM_001146705.2:c.4618A>C NP_001140177.1:p.Asn1540His