Canonical Allele Identifier: CA414840108
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706094G>T , CM000686.2:g.19706094G>T GRCh38
NC_000024.9:g.21867980G>T , CM000686.1:g.21867980G>T GRCh37
NC_000024.8:g.20327368G>T NCBI36
NG_032920.1:g.43846C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4521C>A MANE Select ENSP00000322408.4:p.Asn1507Lys
ENST00000317961.8:c.4521C>A ENSP00000322408.4:p.Asn1507Lys
ENST00000382806.6:c.4350C>A ENSP00000372256.2:p.Asn1450Lys
ENST00000440077.5:c.4398C>A ENSP00000398543.1:p.Asn1466Lys
ENST00000469599.6:n.3272C>A
ENST00000492117.1:n.4566C>A
ENST00000541639.5:c.4614C>A ENSP00000444293.1:p.Asn1538Lys
NM_001146705.1:c.4614C>A NP_001140177.1:p.Asn1538Lys
NM_001146706.1:c.4350C>A NP_001140178.1:p.Asn1450Lys
NM_004653.4:c.4521C>A NP_004644.2:p.Asn1507Lys
XM_005262560.1:c.4386C>A XP_005262617.1:p.Asn1462Lys
XM_005262561.1:c.4290C>A XP_005262618.1:p.Asn1430Lys
XM_011531468.1:c.4443C>A XP_011529770.1:p.Asn1481Lys
XR_430568.2:n.5296C>A
XM_005262560.3:c.4386C>A XP_005262617.1:p.Asn1462Lys
XM_005262561.3:c.4290C>A XP_005262618.1:p.Asn1430Lys
XM_011531468.3:c.4443C>A XP_011529770.1:p.Asn1481Lys
XM_024452495.1:c.2511C>A XP_024308263.1:p.Asn837Lys
XM_024452496.1:c.2277C>A XP_024308264.1:p.Asn759Lys
XR_001756009.2:n.5259C>A
XR_001756010.2:n.5227C>A
XR_001756011.2:n.5124C>A
XR_001756012.2:n.5272C>A
XR_001756013.2:n.4590C>A
XR_002958832.1:n.4844C>A
XR_002958834.1:n.4915C>A
XR_002958835.1:n.4798C>A
XR_002958836.1:n.5449C>A
XR_002958837.1:n.5256C>A
XR_244571.4:n.4776C>A
XR_430568.4:n.5295C>A
NM_001146706.2:c.4350C>A NP_001140178.1:p.Asn1450Lys
NM_004653.5:c.4521C>A MANE Select NP_004644.2:p.Asn1507Lys
NM_001146705.2:c.4614C>A NP_001140177.1:p.Asn1538Lys