Canonical Allele Identifier: CA414844585
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3307A>G MANE Select ENSP00000322408.4:p.Ser1103Gly
ENST00000317961.8:c.3307A>G ENSP00000322408.4:p.Ser1103Gly
ENST00000382806.6:c.3136A>G ENSP00000372256.2:p.Ser1046Gly
ENST00000415360.1:c.223A>G ENSP00000389433.1:p.Ser75Gly
ENST00000440077.5:c.3184A>G ENSP00000398543.1:p.Ser1062Gly
ENST00000469599.6:n.1905A>G
ENST00000492117.1:n.3199A>G
ENST00000541639.5:c.3400A>G ENSP00000444293.1:p.Ser1134Gly
NM_001146705.1:c.3400A>G NP_001140177.1:p.Ser1134Gly
NM_001146706.1:c.3136A>G NP_001140178.1:p.Ser1046Gly
NM_004653.4:c.3307A>G NP_004644.2:p.Ser1103Gly
XM_005262560.1:c.3172A>G XP_005262617.1:p.Ser1058Gly
XM_005262561.1:c.3076A>G XP_005262618.1:p.Ser1026Gly
XM_011531468.1:c.3229A>G XP_011529770.1:p.Ser1077Gly
XR_244571.2:n.3595A>G
XR_430568.2:n.3929A>G
XM_005262560.3:c.3172A>G XP_005262617.1:p.Ser1058Gly
XM_005262561.3:c.3076A>G XP_005262618.1:p.Ser1026Gly
XM_011531468.3:c.3229A>G XP_011529770.1:p.Ser1077Gly
XM_024452495.1:c.1297A>G XP_024308263.1:p.Ser433Gly
XM_024452496.1:c.1063A>G XP_024308264.1:p.Ser355Gly
XR_001756009.2:n.4045A>G
XR_001756010.2:n.4045A>G
XR_001756011.2:n.3910A>G
XR_001756012.2:n.4058A>G
XR_001756013.2:n.3376A>G
XR_002958832.1:n.3477A>G
XR_002958834.1:n.3701A>G
XR_002958835.1:n.3584A>G
XR_002958836.1:n.4267A>G
XR_002958837.1:n.4074A>G
XR_244571.4:n.3594A>G
XR_430568.4:n.3928A>G
NM_001146706.2:c.3136A>G NP_001140178.1:p.Ser1046Gly
NM_004653.5:c.3307A>G MANE Select NP_004644.2:p.Ser1103Gly
NM_001146705.2:c.3400A>G NP_001140177.1:p.Ser1134Gly