Canonical Allele Identifier: CA414840090
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4525A>T MANE Select ENSP00000322408.4:p.Asn1509Tyr
ENST00000317961.8:c.4525A>T ENSP00000322408.4:p.Asn1509Tyr
ENST00000382806.6:c.4354A>T ENSP00000372256.2:p.Asn1452Tyr
ENST00000440077.5:c.4402A>T ENSP00000398543.1:p.Asn1468Tyr
ENST00000469599.6:n.3276A>T
ENST00000492117.1:n.4570A>T
ENST00000541639.5:c.4618A>T ENSP00000444293.1:p.Asn1540Tyr
NM_001146705.1:c.4618A>T NP_001140177.1:p.Asn1540Tyr
NM_001146706.1:c.4354A>T NP_001140178.1:p.Asn1452Tyr
NM_004653.4:c.4525A>T NP_004644.2:p.Asn1509Tyr
XM_005262560.1:c.4390A>T XP_005262617.1:p.Asn1464Tyr
XM_005262561.1:c.4294A>T XP_005262618.1:p.Asn1432Tyr
XM_011531468.1:c.4447A>T XP_011529770.1:p.Asn1483Tyr
XR_430568.2:n.5300A>T
XM_005262560.3:c.4390A>T XP_005262617.1:p.Asn1464Tyr
XM_005262561.3:c.4294A>T XP_005262618.1:p.Asn1432Tyr
XM_011531468.3:c.4447A>T XP_011529770.1:p.Asn1483Tyr
XM_024452495.1:c.2515A>T XP_024308263.1:p.Asn839Tyr
XM_024452496.1:c.2281A>T XP_024308264.1:p.Asn761Tyr
XR_001756009.2:n.5263A>T
XR_001756010.2:n.5231A>T
XR_001756011.2:n.5128A>T
XR_001756012.2:n.5276A>T
XR_001756013.2:n.4594A>T
XR_002958832.1:n.4848A>T
XR_002958834.1:n.4919A>T
XR_002958835.1:n.4802A>T
XR_002958836.1:n.5453A>T
XR_002958837.1:n.5260A>T
XR_244571.4:n.4780A>T
XR_430568.4:n.5299A>T
NM_001146706.2:c.4354A>T NP_001140178.1:p.Asn1452Tyr
NM_004653.5:c.4525A>T MANE Select NP_004644.2:p.Asn1509Tyr
NM_001146705.2:c.4618A>T NP_001140177.1:p.Asn1540Tyr