Canonical Allele Identifier: CA414844582
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19708026T>A , CM000686.2:g.19708026T>A GRCh38
NC_000024.9:g.21869912T>A , CM000686.1:g.21869912T>A GRCh37
NC_000024.8:g.20329300T>A NCBI36
NG_032920.1:g.41914A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3307A>T MANE Select ENSP00000322408.4:p.Ser1103Cys
ENST00000317961.8:c.3307A>T ENSP00000322408.4:p.Ser1103Cys
ENST00000382806.6:c.3136A>T ENSP00000372256.2:p.Ser1046Cys
ENST00000415360.1:c.223A>T ENSP00000389433.1:p.Ser75Cys
ENST00000440077.5:c.3184A>T ENSP00000398543.1:p.Ser1062Cys
ENST00000469599.6:n.1905A>T
ENST00000492117.1:n.3199A>T
ENST00000541639.5:c.3400A>T ENSP00000444293.1:p.Ser1134Cys
NM_001146705.1:c.3400A>T NP_001140177.1:p.Ser1134Cys
NM_001146706.1:c.3136A>T NP_001140178.1:p.Ser1046Cys
NM_004653.4:c.3307A>T NP_004644.2:p.Ser1103Cys
XM_005262560.1:c.3172A>T XP_005262617.1:p.Ser1058Cys
XM_005262561.1:c.3076A>T XP_005262618.1:p.Ser1026Cys
XM_011531468.1:c.3229A>T XP_011529770.1:p.Ser1077Cys
XR_244571.2:n.3595A>T
XR_430568.2:n.3929A>T
XM_005262560.3:c.3172A>T XP_005262617.1:p.Ser1058Cys
XM_005262561.3:c.3076A>T XP_005262618.1:p.Ser1026Cys
XM_011531468.3:c.3229A>T XP_011529770.1:p.Ser1077Cys
XM_024452495.1:c.1297A>T XP_024308263.1:p.Ser433Cys
XM_024452496.1:c.1063A>T XP_024308264.1:p.Ser355Cys
XR_001756009.2:n.4045A>T
XR_001756010.2:n.4045A>T
XR_001756011.2:n.3910A>T
XR_001756012.2:n.4058A>T
XR_001756013.2:n.3376A>T
XR_002958832.1:n.3477A>T
XR_002958834.1:n.3701A>T
XR_002958835.1:n.3584A>T
XR_002958836.1:n.4267A>T
XR_002958837.1:n.4074A>T
XR_244571.4:n.3594A>T
XR_430568.4:n.3928A>T
NM_001146706.2:c.3136A>T NP_001140178.1:p.Ser1046Cys
NM_004653.5:c.3307A>T MANE Select NP_004644.2:p.Ser1103Cys
NM_001146705.2:c.3400A>T NP_001140177.1:p.Ser1134Cys