Canonical Allele Identifier: CA414843792
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707615A>T , CM000686.2:g.19707615A>T GRCh38
NC_000024.9:g.21869501A>T , CM000686.1:g.21869501A>T GRCh37
NC_000024.8:g.20328889A>T NCBI36
NG_032920.1:g.42325T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3531T>A MANE Select ENSP00000322408.4:p.Cys1177Ter
ENST00000317961.8:c.3531T>A ENSP00000322408.4:p.Cys1177Ter
ENST00000382806.6:c.3360T>A ENSP00000372256.2:p.Cys1120Ter
ENST00000415360.1:c.447T>A ENSP00000389433.1:p.Cys149Ter
ENST00000440077.5:c.3408T>A ENSP00000398543.1:p.Cys1136Ter
ENST00000469599.6:n.2129T>A
ENST00000492117.1:n.3423T>A
ENST00000541639.5:c.3624T>A ENSP00000444293.1:p.Cys1208Ter
NM_001146705.1:c.3624T>A NP_001140177.1:p.Cys1208Ter
NM_001146706.1:c.3360T>A NP_001140178.1:p.Cys1120Ter
NM_004653.4:c.3531T>A NP_004644.2:p.Cys1177Ter
XM_005262560.1:c.3396T>A XP_005262617.1:p.Cys1132Ter
XM_005262561.1:c.3300T>A XP_005262618.1:p.Cys1100Ter
XM_011531468.1:c.3453T>A XP_011529770.1:p.Cys1151Ter
XR_244571.2:n.3819T>A
XR_430568.2:n.4153T>A
XM_005262560.3:c.3396T>A XP_005262617.1:p.Cys1132Ter
XM_005262561.3:c.3300T>A XP_005262618.1:p.Cys1100Ter
XM_011531468.3:c.3453T>A XP_011529770.1:p.Cys1151Ter
XM_024452495.1:c.1521T>A XP_024308263.1:p.Cys507Ter
XM_024452496.1:c.1287T>A XP_024308264.1:p.Cys429Ter
XR_001756009.2:n.4269T>A
XR_001756010.2:n.4269T>A
XR_001756011.2:n.4134T>A
XR_001756012.2:n.4282T>A
XR_001756013.2:n.3600T>A
XR_002958832.1:n.3701T>A
XR_002958834.1:n.3925T>A
XR_002958835.1:n.3808T>A
XR_002958836.1:n.4491T>A
XR_002958837.1:n.4298T>A
XR_244571.4:n.3818T>A
XR_430568.4:n.4152T>A
NM_001146706.2:c.3360T>A NP_001140178.1:p.Cys1120Ter
NM_004653.5:c.3531T>A MANE Select NP_004644.2:p.Cys1177Ter
NM_001146705.2:c.3624T>A NP_001140177.1:p.Cys1208Ter