Canonical Allele Identifier: CA414840173
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706110G>T , CM000686.2:g.19706110G>T GRCh38
NC_000024.9:g.21867996G>T , CM000686.1:g.21867996G>T GRCh37
NC_000024.8:g.20327384G>T NCBI36
NG_032920.1:g.43830C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4505C>A MANE Select ENSP00000322408.4:p.Pro1502His
ENST00000317961.8:c.4505C>A ENSP00000322408.4:p.Pro1502His
ENST00000382806.6:c.4334C>A ENSP00000372256.2:p.Pro1445His
ENST00000440077.5:c.4382C>A ENSP00000398543.1:p.Pro1461His
ENST00000469599.6:n.3256C>A
ENST00000492117.1:n.4550C>A
ENST00000541639.5:c.4598C>A ENSP00000444293.1:p.Pro1533His
NM_001146705.1:c.4598C>A NP_001140177.1:p.Pro1533His
NM_001146706.1:c.4334C>A NP_001140178.1:p.Pro1445His
NM_004653.4:c.4505C>A NP_004644.2:p.Pro1502His
XM_005262560.1:c.4370C>A XP_005262617.1:p.Pro1457His
XM_005262561.1:c.4274C>A XP_005262618.1:p.Pro1425His
XM_011531468.1:c.4427C>A XP_011529770.1:p.Pro1476His
XR_430568.2:n.5280C>A
XM_005262560.3:c.4370C>A XP_005262617.1:p.Pro1457His
XM_005262561.3:c.4274C>A XP_005262618.1:p.Pro1425His
XM_011531468.3:c.4427C>A XP_011529770.1:p.Pro1476His
XM_024452495.1:c.2495C>A XP_024308263.1:p.Pro832His
XM_024452496.1:c.2261C>A XP_024308264.1:p.Pro754His
XR_001756009.2:n.5243C>A
XR_001756010.2:n.5211C>A
XR_001756011.2:n.5108C>A
XR_001756012.2:n.5256C>A
XR_001756013.2:n.4574C>A
XR_002958832.1:n.4828C>A
XR_002958834.1:n.4899C>A
XR_002958835.1:n.4782C>A
XR_002958836.1:n.5433C>A
XR_002958837.1:n.5240C>A
XR_244571.4:n.4760C>A
XR_430568.4:n.5279C>A
NM_001146706.2:c.4334C>A NP_001140178.1:p.Pro1445His
NM_004653.5:c.4505C>A MANE Select NP_004644.2:p.Pro1502His
NM_001146705.2:c.4598C>A NP_001140177.1:p.Pro1533His