Canonical Allele Identifier: CA414840081
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706088A>C , CM000686.2:g.19706088A>C GRCh38
NC_000024.9:g.21867974A>C , CM000686.1:g.21867974A>C GRCh37
NC_000024.8:g.20327362A>C NCBI36
NG_032920.1:g.43852T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4527T>G MANE Select ENSP00000322408.4:p.Asn1509Lys
ENST00000317961.8:c.4527T>G ENSP00000322408.4:p.Asn1509Lys
ENST00000382806.6:c.4356T>G ENSP00000372256.2:p.Asn1452Lys
ENST00000440077.5:c.4404T>G ENSP00000398543.1:p.Asn1468Lys
ENST00000469599.6:n.3278T>G
ENST00000492117.1:n.4572T>G
ENST00000541639.5:c.4620T>G ENSP00000444293.1:p.Asn1540Lys
NM_001146705.1:c.4620T>G NP_001140177.1:p.Asn1540Lys
NM_001146706.1:c.4356T>G NP_001140178.1:p.Asn1452Lys
NM_004653.4:c.4527T>G NP_004644.2:p.Asn1509Lys
XM_005262560.1:c.4392T>G XP_005262617.1:p.Asn1464Lys
XM_005262561.1:c.4296T>G XP_005262618.1:p.Asn1432Lys
XM_011531468.1:c.4449T>G XP_011529770.1:p.Asn1483Lys
XR_430568.2:n.5302T>G
XM_005262560.3:c.4392T>G XP_005262617.1:p.Asn1464Lys
XM_005262561.3:c.4296T>G XP_005262618.1:p.Asn1432Lys
XM_011531468.3:c.4449T>G XP_011529770.1:p.Asn1483Lys
XM_024452495.1:c.2517T>G XP_024308263.1:p.Asn839Lys
XM_024452496.1:c.2283T>G XP_024308264.1:p.Asn761Lys
XR_001756009.2:n.5265T>G
XR_001756010.2:n.5233T>G
XR_001756011.2:n.5130T>G
XR_001756012.2:n.5278T>G
XR_001756013.2:n.4596T>G
XR_002958832.1:n.4850T>G
XR_002958834.1:n.4921T>G
XR_002958835.1:n.4804T>G
XR_002958836.1:n.5455T>G
XR_002958837.1:n.5262T>G
XR_244571.4:n.4782T>G
XR_430568.4:n.5301T>G
NM_001146706.2:c.4356T>G NP_001140178.1:p.Asn1452Lys
NM_004653.5:c.4527T>G MANE Select NP_004644.2:p.Asn1509Lys
NM_001146705.2:c.4620T>G NP_001140177.1:p.Asn1540Lys