Canonical Allele Identifier: CA414843416
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707517G>T , CM000686.2:g.19707517G>T GRCh38
NC_000024.9:g.21869403G>T , CM000686.1:g.21869403G>T GRCh37
NC_000024.8:g.20328791G>T NCBI36
NG_032920.1:g.42423C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3629C>A MANE Select ENSP00000322408.4:p.Pro1210Gln
ENST00000317961.8:c.3629C>A ENSP00000322408.4:p.Pro1210Gln
ENST00000382806.6:c.3458C>A ENSP00000372256.2:p.Pro1153Gln
ENST00000415360.1:c.545C>A ENSP00000389433.1:p.Pro182Gln
ENST00000440077.5:c.3506C>A ENSP00000398543.1:p.Pro1169Gln
ENST00000469599.6:n.2227C>A
ENST00000492117.1:n.3521C>A
ENST00000541639.5:c.3722C>A ENSP00000444293.1:p.Pro1241Gln
NM_001146705.1:c.3722C>A NP_001140177.1:p.Pro1241Gln
NM_001146706.1:c.3458C>A NP_001140178.1:p.Pro1153Gln
NM_004653.4:c.3629C>A NP_004644.2:p.Pro1210Gln
XM_005262560.1:c.3494C>A XP_005262617.1:p.Pro1165Gln
XM_005262561.1:c.3398C>A XP_005262618.1:p.Pro1133Gln
XM_011531468.1:c.3551C>A XP_011529770.1:p.Pro1184Gln
XR_244571.2:n.3917C>A
XR_430568.2:n.4251C>A
XM_005262560.3:c.3494C>A XP_005262617.1:p.Pro1165Gln
XM_005262561.3:c.3398C>A XP_005262618.1:p.Pro1133Gln
XM_011531468.3:c.3551C>A XP_011529770.1:p.Pro1184Gln
XM_024452495.1:c.1619C>A XP_024308263.1:p.Pro540Gln
XM_024452496.1:c.1385C>A XP_024308264.1:p.Pro462Gln
XR_001756009.2:n.4367C>A
XR_001756010.2:n.4367C>A
XR_001756011.2:n.4232C>A
XR_001756012.2:n.4380C>A
XR_001756013.2:n.3698C>A
XR_002958832.1:n.3799C>A
XR_002958834.1:n.4023C>A
XR_002958835.1:n.3906C>A
XR_002958836.1:n.4589C>A
XR_002958837.1:n.4396C>A
XR_244571.4:n.3916C>A
XR_430568.4:n.4250C>A
NM_001146706.2:c.3458C>A NP_001140178.1:p.Pro1153Gln
NM_004653.5:c.3629C>A MANE Select NP_004644.2:p.Pro1210Gln
NM_001146705.2:c.3722C>A NP_001140177.1:p.Pro1241Gln