Canonical Allele Identifier: CA414840234
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706126A>T , CM000686.2:g.19706126A>T GRCh38
NC_000024.9:g.21868012A>T , CM000686.1:g.21868012A>T GRCh37
NC_000024.8:g.20327400A>T NCBI36
NG_032920.1:g.43814T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4489T>A MANE Select ENSP00000322408.4:p.Ser1497Thr
ENST00000317961.8:c.4489T>A ENSP00000322408.4:p.Ser1497Thr
ENST00000382806.6:c.4318T>A ENSP00000372256.2:p.Ser1440Thr
ENST00000440077.5:c.4366T>A ENSP00000398543.1:p.Ser1456Thr
ENST00000469599.6:n.3240T>A
ENST00000492117.1:n.4534T>A
ENST00000541639.5:c.4582T>A ENSP00000444293.1:p.Ser1528Thr
NM_001146705.1:c.4582T>A NP_001140177.1:p.Ser1528Thr
NM_001146706.1:c.4318T>A NP_001140178.1:p.Ser1440Thr
NM_004653.4:c.4489T>A NP_004644.2:p.Ser1497Thr
XM_005262560.1:c.4354T>A XP_005262617.1:p.Ser1452Thr
XM_005262561.1:c.4258T>A XP_005262618.1:p.Ser1420Thr
XM_011531468.1:c.4411T>A XP_011529770.1:p.Ser1471Thr
XR_430568.2:n.5264T>A
XM_005262560.3:c.4354T>A XP_005262617.1:p.Ser1452Thr
XM_005262561.3:c.4258T>A XP_005262618.1:p.Ser1420Thr
XM_011531468.3:c.4411T>A XP_011529770.1:p.Ser1471Thr
XM_024452495.1:c.2479T>A XP_024308263.1:p.Ser827Thr
XM_024452496.1:c.2245T>A XP_024308264.1:p.Ser749Thr
XR_001756009.2:n.5227T>A
XR_001756010.2:n.5195T>A
XR_001756011.2:n.5092T>A
XR_001756012.2:n.5240T>A
XR_001756013.2:n.4558T>A
XR_002958832.1:n.4812T>A
XR_002958834.1:n.4883T>A
XR_002958835.1:n.4766T>A
XR_002958836.1:n.5417T>A
XR_002958837.1:n.5224T>A
XR_244571.4:n.4744T>A
XR_430568.4:n.5263T>A
NM_001146706.2:c.4318T>A NP_001140178.1:p.Ser1440Thr
NM_004653.5:c.4489T>A MANE Select NP_004644.2:p.Ser1497Thr
NM_001146705.2:c.4582T>A NP_001140177.1:p.Ser1528Thr