Canonical Allele Identifier: CA414840329
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706152T>A , CM000686.2:g.19706152T>A GRCh38
NC_000024.9:g.21868038T>A , CM000686.1:g.21868038T>A GRCh37
NC_000024.8:g.20327426T>A NCBI36
NG_032920.1:g.43788A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4463A>T MANE Select ENSP00000322408.4:p.Asp1488Val
ENST00000317961.8:c.4463A>T ENSP00000322408.4:p.Asp1488Val
ENST00000382806.6:c.4292A>T ENSP00000372256.2:p.Asp1431Val
ENST00000440077.5:c.4340A>T ENSP00000398543.1:p.Asp1447Val
ENST00000469599.6:n.3214A>T
ENST00000492117.1:n.4508A>T
ENST00000541639.5:c.4556A>T ENSP00000444293.1:p.Asp1519Val
NM_001146705.1:c.4556A>T NP_001140177.1:p.Asp1519Val
NM_001146706.1:c.4292A>T NP_001140178.1:p.Asp1431Val
NM_004653.4:c.4463A>T NP_004644.2:p.Asp1488Val
XM_005262560.1:c.4328A>T XP_005262617.1:p.Asp1443Val
XM_005262561.1:c.4232A>T XP_005262618.1:p.Asp1411Val
XM_011531468.1:c.4385A>T XP_011529770.1:p.Asp1462Val
XR_430568.2:n.5238A>T
XM_005262560.3:c.4328A>T XP_005262617.1:p.Asp1443Val
XM_005262561.3:c.4232A>T XP_005262618.1:p.Asp1411Val
XM_011531468.3:c.4385A>T XP_011529770.1:p.Asp1462Val
XM_024452495.1:c.2453A>T XP_024308263.1:p.Asp818Val
XM_024452496.1:c.2219A>T XP_024308264.1:p.Asp740Val
XR_001756009.2:n.5201A>T
XR_001756010.2:n.5169A>T
XR_001756011.2:n.5066A>T
XR_001756012.2:n.5214A>T
XR_001756013.2:n.4532A>T
XR_002958832.1:n.4786A>T
XR_002958834.1:n.4857A>T
XR_002958835.1:n.4740A>T
XR_002958836.1:n.5391A>T
XR_002958837.1:n.5198A>T
XR_244571.4:n.4718A>T
XR_430568.4:n.5237A>T
NM_001146706.2:c.4292A>T NP_001140178.1:p.Asp1431Val
NM_004653.5:c.4463A>T MANE Select NP_004644.2:p.Asp1488Val
NM_001146705.2:c.4556A>T NP_001140177.1:p.Asp1519Val