Canonical Allele Identifier: CA414839983
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706065C>T , CM000686.2:g.19706065C>T GRCh38
NC_000024.9:g.21867951C>T , CM000686.1:g.21867951C>T GRCh37
NC_000024.8:g.20327339C>T NCBI36
NG_032920.1:g.43875G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4550G>A MANE Select ENSP00000322408.4:p.Gly1517Asp
ENST00000317961.8:c.4550G>A ENSP00000322408.4:p.Gly1517Asp
ENST00000382806.6:c.4379G>A ENSP00000372256.2:p.Gly1460Asp
ENST00000440077.5:c.4427G>A ENSP00000398543.1:p.Gly1476Asp
ENST00000469599.6:n.3301G>A
ENST00000492117.1:n.4595G>A
ENST00000541639.5:c.4643G>A ENSP00000444293.1:p.Gly1548Asp
NM_001146705.1:c.4643G>A NP_001140177.1:p.Gly1548Asp
NM_001146706.1:c.4379G>A NP_001140178.1:p.Gly1460Asp
NM_004653.4:c.4550G>A NP_004644.2:p.Gly1517Asp
XM_005262560.1:c.4415G>A XP_005262617.1:p.Gly1472Asp
XM_005262561.1:c.4319G>A XP_005262618.1:p.Gly1440Asp
XM_011531468.1:c.4472G>A XP_011529770.1:p.Gly1491Asp
XR_430568.2:n.5325G>A
XM_005262560.3:c.4415G>A XP_005262617.1:p.Gly1472Asp
XM_005262561.3:c.4319G>A XP_005262618.1:p.Gly1440Asp
XM_011531468.3:c.4472G>A XP_011529770.1:p.Gly1491Asp
XM_024452495.1:c.2540G>A XP_024308263.1:p.Gly847Asp
XM_024452496.1:c.2306G>A XP_024308264.1:p.Gly769Asp
XR_001756009.2:n.5288G>A
XR_001756010.2:n.5256G>A
XR_001756011.2:n.5153G>A
XR_001756012.2:n.5301G>A
XR_001756013.2:n.4619G>A
XR_002958832.1:n.4873G>A
XR_002958834.1:n.4944G>A
XR_002958835.1:n.4827G>A
XR_002958836.1:n.5478G>A
XR_002958837.1:n.5285G>A
XR_244571.4:n.4805G>A
XR_430568.4:n.5324G>A
NM_001146706.2:c.4379G>A NP_001140178.1:p.Gly1460Asp
NM_004653.5:c.4550G>A MANE Select NP_004644.2:p.Gly1517Asp
NM_001146705.2:c.4643G>A NP_001140177.1:p.Gly1548Asp