Canonical Allele Identifier: CA414844464
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19708001C>G , CM000686.2:g.19708001C>G GRCh38
NC_000024.9:g.21869887C>G , CM000686.1:g.21869887C>G GRCh37
NC_000024.8:g.20329275C>G NCBI36
NG_032920.1:g.41939G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3332G>C MANE Select ENSP00000322408.4:p.Gly1111Ala
ENST00000317961.8:c.3332G>C ENSP00000322408.4:p.Gly1111Ala
ENST00000382806.6:c.3161G>C ENSP00000372256.2:p.Gly1054Ala
ENST00000415360.1:c.248G>C ENSP00000389433.1:p.Gly83Ala
ENST00000440077.5:c.3209G>C ENSP00000398543.1:p.Gly1070Ala
ENST00000469599.6:n.1930G>C
ENST00000492117.1:n.3224G>C
ENST00000541639.5:c.3425G>C ENSP00000444293.1:p.Gly1142Ala
NM_001146705.1:c.3425G>C NP_001140177.1:p.Gly1142Ala
NM_001146706.1:c.3161G>C NP_001140178.1:p.Gly1054Ala
NM_004653.4:c.3332G>C NP_004644.2:p.Gly1111Ala
XM_005262560.1:c.3197G>C XP_005262617.1:p.Gly1066Ala
XM_005262561.1:c.3101G>C XP_005262618.1:p.Gly1034Ala
XM_011531468.1:c.3254G>C XP_011529770.1:p.Gly1085Ala
XR_244571.2:n.3620G>C
XR_430568.2:n.3954G>C
XM_005262560.3:c.3197G>C XP_005262617.1:p.Gly1066Ala
XM_005262561.3:c.3101G>C XP_005262618.1:p.Gly1034Ala
XM_011531468.3:c.3254G>C XP_011529770.1:p.Gly1085Ala
XM_024452495.1:c.1322G>C XP_024308263.1:p.Gly441Ala
XM_024452496.1:c.1088G>C XP_024308264.1:p.Gly363Ala
XR_001756009.2:n.4070G>C
XR_001756010.2:n.4070G>C
XR_001756011.2:n.3935G>C
XR_001756012.2:n.4083G>C
XR_001756013.2:n.3401G>C
XR_002958832.1:n.3502G>C
XR_002958834.1:n.3726G>C
XR_002958835.1:n.3609G>C
XR_002958836.1:n.4292G>C
XR_002958837.1:n.4099G>C
XR_244571.4:n.3619G>C
XR_430568.4:n.3953G>C
NM_001146706.2:c.3161G>C NP_001140178.1:p.Gly1054Ala
NM_004653.5:c.3332G>C MANE Select NP_004644.2:p.Gly1111Ala
NM_001146705.2:c.3425G>C NP_001140177.1:p.Gly1142Ala