Canonical Allele Identifier: CA414843516
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707546A>T , CM000686.2:g.19707546A>T GRCh38
NC_000024.9:g.21869432A>T , CM000686.1:g.21869432A>T GRCh37
NC_000024.8:g.20328820A>T NCBI36
NG_032920.1:g.42394T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3600T>A MANE Select ENSP00000322408.4:p.Cys1200Ter
ENST00000317961.8:c.3600T>A ENSP00000322408.4:p.Cys1200Ter
ENST00000382806.6:c.3429T>A ENSP00000372256.2:p.Cys1143Ter
ENST00000415360.1:c.516T>A ENSP00000389433.1:p.Cys172Ter
ENST00000440077.5:c.3477T>A ENSP00000398543.1:p.Cys1159Ter
ENST00000469599.6:n.2198T>A
ENST00000492117.1:n.3492T>A
ENST00000541639.5:c.3693T>A ENSP00000444293.1:p.Cys1231Ter
NM_001146705.1:c.3693T>A NP_001140177.1:p.Cys1231Ter
NM_001146706.1:c.3429T>A NP_001140178.1:p.Cys1143Ter
NM_004653.4:c.3600T>A NP_004644.2:p.Cys1200Ter
XM_005262560.1:c.3465T>A XP_005262617.1:p.Cys1155Ter
XM_005262561.1:c.3369T>A XP_005262618.1:p.Cys1123Ter
XM_011531468.1:c.3522T>A XP_011529770.1:p.Cys1174Ter
XR_244571.2:n.3888T>A
XR_430568.2:n.4222T>A
XM_005262560.3:c.3465T>A XP_005262617.1:p.Cys1155Ter
XM_005262561.3:c.3369T>A XP_005262618.1:p.Cys1123Ter
XM_011531468.3:c.3522T>A XP_011529770.1:p.Cys1174Ter
XM_024452495.1:c.1590T>A XP_024308263.1:p.Cys530Ter
XM_024452496.1:c.1356T>A XP_024308264.1:p.Cys452Ter
XR_001756009.2:n.4338T>A
XR_001756010.2:n.4338T>A
XR_001756011.2:n.4203T>A
XR_001756012.2:n.4351T>A
XR_001756013.2:n.3669T>A
XR_002958832.1:n.3770T>A
XR_002958834.1:n.3994T>A
XR_002958835.1:n.3877T>A
XR_002958836.1:n.4560T>A
XR_002958837.1:n.4367T>A
XR_244571.4:n.3887T>A
XR_430568.4:n.4221T>A
NM_001146706.2:c.3429T>A NP_001140178.1:p.Cys1143Ter
NM_004653.5:c.3600T>A MANE Select NP_004644.2:p.Cys1200Ter
NM_001146705.2:c.3693T>A NP_001140177.1:p.Cys1231Ter