Canonical Allele Identifier: CA414844382
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707980T>C , CM000686.2:g.19707980T>C GRCh38
NC_000024.9:g.21869866T>C , CM000686.1:g.21869866T>C GRCh37
NC_000024.8:g.20329254T>C NCBI36
NG_032920.1:g.41960A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000317961.9:c.3353A>G MANE Select ENSP00000322408.4:p.Glu1118Gly
ENST00000317961.8:c.3353A>G ENSP00000322408.4:p.Glu1118Gly
ENST00000382806.6:c.3182A>G ENSP00000372256.2:p.Glu1061Gly
ENST00000415360.1:c.269A>G ENSP00000389433.1:p.Glu90Gly
ENST00000440077.5:c.3230A>G ENSP00000398543.1:p.Glu1077Gly
ENST00000469599.6:n.1951A>G
ENST00000492117.1:n.3245A>G
ENST00000541639.5:c.3446A>G ENSP00000444293.1:p.Glu1149Gly
NM_001146705.1:c.3446A>G NP_001140177.1:p.Glu1149Gly
NM_001146706.1:c.3182A>G NP_001140178.1:p.Glu1061Gly
NM_004653.4:c.3353A>G NP_004644.2:p.Glu1118Gly
XM_005262560.1:c.3218A>G XP_005262617.1:p.Glu1073Gly
XM_005262561.1:c.3122A>G XP_005262618.1:p.Glu1041Gly
XM_011531468.1:c.3275A>G XP_011529770.1:p.Glu1092Gly
XR_244571.2:n.3641A>G
XR_430568.2:n.3975A>G
XM_005262560.3:c.3218A>G XP_005262617.1:p.Glu1073Gly
XM_005262561.3:c.3122A>G XP_005262618.1:p.Glu1041Gly
XM_011531468.3:c.3275A>G XP_011529770.1:p.Glu1092Gly
XM_024452495.1:c.1343A>G XP_024308263.1:p.Glu448Gly
XM_024452496.1:c.1109A>G XP_024308264.1:p.Glu370Gly
XR_001756009.2:n.4091A>G
XR_001756010.2:n.4091A>G
XR_001756011.2:n.3956A>G
XR_001756012.2:n.4104A>G
XR_001756013.2:n.3422A>G
XR_002958832.1:n.3523A>G
XR_002958834.1:n.3747A>G
XR_002958835.1:n.3630A>G
XR_002958836.1:n.4313A>G
XR_002958837.1:n.4120A>G
XR_244571.4:n.3640A>G
XR_430568.4:n.3974A>G
NM_001146706.2:c.3182A>G NP_001140178.1:p.Glu1061Gly
NM_004653.5:c.3353A>G MANE Select NP_004644.2:p.Glu1118Gly
NM_001146705.2:c.3446A>G NP_001140177.1:p.Glu1149Gly