Canonical Allele Identifier: CA414843405
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707515T>A , CM000686.2:g.19707515T>A GRCh38
NC_000024.9:g.21869401T>A , CM000686.1:g.21869401T>A GRCh37
NC_000024.8:g.20328789T>A NCBI36
NG_032920.1:g.42425A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3631A>T MANE Select ENSP00000322408.4:p.Lys1211Ter
ENST00000317961.8:c.3631A>T ENSP00000322408.4:p.Lys1211Ter
ENST00000382806.6:c.3460A>T ENSP00000372256.2:p.Lys1154Ter
ENST00000415360.1:c.547A>T ENSP00000389433.1:p.Lys183Ter
ENST00000440077.5:c.3508A>T ENSP00000398543.1:p.Lys1170Ter
ENST00000469599.6:n.2229A>T
ENST00000492117.1:n.3523A>T
ENST00000541639.5:c.3724A>T ENSP00000444293.1:p.Lys1242Ter
NM_001146705.1:c.3724A>T NP_001140177.1:p.Lys1242Ter
NM_001146706.1:c.3460A>T NP_001140178.1:p.Lys1154Ter
NM_004653.4:c.3631A>T NP_004644.2:p.Lys1211Ter
XM_005262560.1:c.3496A>T XP_005262617.1:p.Lys1166Ter
XM_005262561.1:c.3400A>T XP_005262618.1:p.Lys1134Ter
XM_011531468.1:c.3553A>T XP_011529770.1:p.Lys1185Ter
XR_244571.2:n.3919A>T
XR_430568.2:n.4253A>T
XM_005262560.3:c.3496A>T XP_005262617.1:p.Lys1166Ter
XM_005262561.3:c.3400A>T XP_005262618.1:p.Lys1134Ter
XM_011531468.3:c.3553A>T XP_011529770.1:p.Lys1185Ter
XM_024452495.1:c.1621A>T XP_024308263.1:p.Lys541Ter
XM_024452496.1:c.1387A>T XP_024308264.1:p.Lys463Ter
XR_001756009.2:n.4369A>T
XR_001756010.2:n.4369A>T
XR_001756011.2:n.4234A>T
XR_001756012.2:n.4382A>T
XR_001756013.2:n.3700A>T
XR_002958832.1:n.3801A>T
XR_002958834.1:n.4025A>T
XR_002958835.1:n.3908A>T
XR_002958836.1:n.4591A>T
XR_002958837.1:n.4398A>T
XR_244571.4:n.3918A>T
XR_430568.4:n.4252A>T
NM_001146706.2:c.3460A>T NP_001140178.1:p.Lys1154Ter
NM_004653.5:c.3631A>T MANE Select NP_004644.2:p.Lys1211Ter
NM_001146705.2:c.3724A>T NP_001140177.1:p.Lys1242Ter