Canonical Allele Identifier: CA414843420
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707518G>T , CM000686.2:g.19707518G>T GRCh38
NC_000024.9:g.21869404G>T , CM000686.1:g.21869404G>T GRCh37
NC_000024.8:g.20328792G>T NCBI36
NG_032920.1:g.42422C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3628C>A MANE Select ENSP00000322408.4:p.Pro1210Thr
ENST00000317961.8:c.3628C>A ENSP00000322408.4:p.Pro1210Thr
ENST00000382806.6:c.3457C>A ENSP00000372256.2:p.Pro1153Thr
ENST00000415360.1:c.544C>A ENSP00000389433.1:p.Pro182Thr
ENST00000440077.5:c.3505C>A ENSP00000398543.1:p.Pro1169Thr
ENST00000469599.6:n.2226C>A
ENST00000492117.1:n.3520C>A
ENST00000541639.5:c.3721C>A ENSP00000444293.1:p.Pro1241Thr
NM_001146705.1:c.3721C>A NP_001140177.1:p.Pro1241Thr
NM_001146706.1:c.3457C>A NP_001140178.1:p.Pro1153Thr
NM_004653.4:c.3628C>A NP_004644.2:p.Pro1210Thr
XM_005262560.1:c.3493C>A XP_005262617.1:p.Pro1165Thr
XM_005262561.1:c.3397C>A XP_005262618.1:p.Pro1133Thr
XM_011531468.1:c.3550C>A XP_011529770.1:p.Pro1184Thr
XR_244571.2:n.3916C>A
XR_430568.2:n.4250C>A
XM_005262560.3:c.3493C>A XP_005262617.1:p.Pro1165Thr
XM_005262561.3:c.3397C>A XP_005262618.1:p.Pro1133Thr
XM_011531468.3:c.3550C>A XP_011529770.1:p.Pro1184Thr
XM_024452495.1:c.1618C>A XP_024308263.1:p.Pro540Thr
XM_024452496.1:c.1384C>A XP_024308264.1:p.Pro462Thr
XR_001756009.2:n.4366C>A
XR_001756010.2:n.4366C>A
XR_001756011.2:n.4231C>A
XR_001756012.2:n.4379C>A
XR_001756013.2:n.3697C>A
XR_002958832.1:n.3798C>A
XR_002958834.1:n.4022C>A
XR_002958835.1:n.3905C>A
XR_002958836.1:n.4588C>A
XR_002958837.1:n.4395C>A
XR_244571.4:n.3915C>A
XR_430568.4:n.4249C>A
NM_001146706.2:c.3457C>A NP_001140178.1:p.Pro1153Thr
NM_004653.5:c.3628C>A MANE Select NP_004644.2:p.Pro1210Thr
NM_001146705.2:c.3721C>A NP_001140177.1:p.Pro1241Thr