Canonical Allele Identifier: CA414839965
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706060A>G , CM000686.2:g.19706060A>G GRCh38
NC_000024.9:g.21867946A>G , CM000686.1:g.21867946A>G GRCh37
NC_000024.8:g.20327334A>G NCBI36
NG_032920.1:g.43880T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4555T>C MANE Select ENSP00000322408.4:p.Ser1519Pro
ENST00000317961.8:c.4555T>C ENSP00000322408.4:p.Ser1519Pro
ENST00000382806.6:c.4384T>C ENSP00000372256.2:p.Ser1462Pro
ENST00000469599.6:n.3306T>C
ENST00000492117.1:n.4600T>C
ENST00000541639.5:c.4648T>C ENSP00000444293.1:p.Ser1550Pro
NM_001146705.1:c.4648T>C NP_001140177.1:p.Ser1550Pro
NM_001146706.1:c.4384T>C NP_001140178.1:p.Ser1462Pro
NM_004653.4:c.4555T>C NP_004644.2:p.Ser1519Pro
XM_005262560.1:c.4420T>C XP_005262617.1:p.Ser1474Pro
XM_005262561.1:c.4324T>C XP_005262618.1:p.Ser1442Pro
XM_011531468.1:c.4477T>C XP_011529770.1:p.Ser1493Pro
XR_430568.2:n.5330T>C
XM_005262560.3:c.4420T>C XP_005262617.1:p.Ser1474Pro
XM_005262561.3:c.4324T>C XP_005262618.1:p.Ser1442Pro
XM_011531468.3:c.4477T>C XP_011529770.1:p.Ser1493Pro
XM_024452495.1:c.2545T>C XP_024308263.1:p.Ser849Pro
XM_024452496.1:c.2311T>C XP_024308264.1:p.Ser771Pro
XR_001756009.2:n.5293T>C
XR_001756010.2:n.5261T>C
XR_001756011.2:n.5158T>C
XR_001756012.2:n.5306T>C
XR_001756013.2:n.4624T>C
XR_002958832.1:n.4878T>C
XR_002958834.1:n.4949T>C
XR_002958835.1:n.4832T>C
XR_002958836.1:n.5483T>C
XR_002958837.1:n.5290T>C
XR_244571.4:n.4810T>C
XR_430568.4:n.5329T>C
NM_001146706.2:c.4384T>C NP_001140178.1:p.Ser1462Pro
NM_004653.5:c.4555T>C MANE Select NP_004644.2:p.Ser1519Pro
NM_001146705.2:c.4648T>C NP_001140177.1:p.Ser1550Pro