Canonical Allele Identifier: CA414840112
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706095T>C , CM000686.2:g.19706095T>C GRCh38
NC_000024.9:g.21867981T>C , CM000686.1:g.21867981T>C GRCh37
NC_000024.8:g.20327369T>C NCBI36
NG_032920.1:g.43845A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4520A>G MANE Select ENSP00000322408.4:p.Asn1507Ser
ENST00000317961.8:c.4520A>G ENSP00000322408.4:p.Asn1507Ser
ENST00000382806.6:c.4349A>G ENSP00000372256.2:p.Asn1450Ser
ENST00000440077.5:c.4397A>G ENSP00000398543.1:p.Asn1466Ser
ENST00000469599.6:n.3271A>G
ENST00000492117.1:n.4565A>G
ENST00000541639.5:c.4613A>G ENSP00000444293.1:p.Asn1538Ser
NM_001146705.1:c.4613A>G NP_001140177.1:p.Asn1538Ser
NM_001146706.1:c.4349A>G NP_001140178.1:p.Asn1450Ser
NM_004653.4:c.4520A>G NP_004644.2:p.Asn1507Ser
XM_005262560.1:c.4385A>G XP_005262617.1:p.Asn1462Ser
XM_005262561.1:c.4289A>G XP_005262618.1:p.Asn1430Ser
XM_011531468.1:c.4442A>G XP_011529770.1:p.Asn1481Ser
XR_430568.2:n.5295A>G
XM_005262560.3:c.4385A>G XP_005262617.1:p.Asn1462Ser
XM_005262561.3:c.4289A>G XP_005262618.1:p.Asn1430Ser
XM_011531468.3:c.4442A>G XP_011529770.1:p.Asn1481Ser
XM_024452495.1:c.2510A>G XP_024308263.1:p.Asn837Ser
XM_024452496.1:c.2276A>G XP_024308264.1:p.Asn759Ser
XR_001756009.2:n.5258A>G
XR_001756010.2:n.5226A>G
XR_001756011.2:n.5123A>G
XR_001756012.2:n.5271A>G
XR_001756013.2:n.4589A>G
XR_002958832.1:n.4843A>G
XR_002958834.1:n.4914A>G
XR_002958835.1:n.4797A>G
XR_002958836.1:n.5448A>G
XR_002958837.1:n.5255A>G
XR_244571.4:n.4775A>G
XR_430568.4:n.5294A>G
NM_001146706.2:c.4349A>G NP_001140178.1:p.Asn1450Ser
NM_004653.5:c.4520A>G MANE Select NP_004644.2:p.Asn1507Ser
NM_001146705.2:c.4613A>G NP_001140177.1:p.Asn1538Ser