Canonical Allele Identifier: CA414841892
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706805C>T , CM000686.2:g.19706805C>T GRCh38
NC_000024.9:g.21868691C>T , CM000686.1:g.21868691C>T GRCh37
NC_000024.8:g.20328079C>T NCBI36
NG_032920.1:g.43135G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4058G>A MANE Select ENSP00000322408.4:p.Gly1353Glu
ENST00000317961.8:c.4058G>A ENSP00000322408.4:p.Gly1353Glu
ENST00000382806.6:c.3887G>A ENSP00000372256.2:p.Gly1296Glu
ENST00000440077.5:c.3935G>A ENSP00000398543.1:p.Gly1312Glu
ENST00000469599.6:n.2656G>A
ENST00000492117.1:n.3950G>A
ENST00000541639.5:c.4151G>A ENSP00000444293.1:p.Gly1384Glu
NM_001146705.1:c.4151G>A NP_001140177.1:p.Gly1384Glu
NM_001146706.1:c.3887G>A NP_001140178.1:p.Gly1296Glu
NM_004653.4:c.4058G>A NP_004644.2:p.Gly1353Glu
XM_005262560.1:c.3923G>A XP_005262617.1:p.Gly1308Glu
XM_005262561.1:c.3827G>A XP_005262618.1:p.Gly1276Glu
XM_011531468.1:c.3980G>A XP_011529770.1:p.Gly1327Glu
XR_244571.2:n.4346G>A
XR_430568.2:n.4680G>A
XM_005262560.3:c.3923G>A XP_005262617.1:p.Gly1308Glu
XM_005262561.3:c.3827G>A XP_005262618.1:p.Gly1276Glu
XM_011531468.3:c.3980G>A XP_011529770.1:p.Gly1327Glu
XM_024452495.1:c.2048G>A XP_024308263.1:p.Gly683Glu
XM_024452496.1:c.1814G>A XP_024308264.1:p.Gly605Glu
XR_001756009.2:n.4796G>A
XR_001756010.2:n.4796G>A
XR_001756011.2:n.4661G>A
XR_001756012.2:n.4809G>A
XR_001756013.2:n.4127G>A
XR_002958832.1:n.4228G>A
XR_002958834.1:n.4452G>A
XR_002958835.1:n.4335G>A
XR_002958836.1:n.5018G>A
XR_002958837.1:n.4825G>A
XR_244571.4:n.4345G>A
XR_430568.4:n.4679G>A
NM_001146706.2:c.3887G>A NP_001140178.1:p.Gly1296Glu
NM_004653.5:c.4058G>A MANE Select NP_004644.2:p.Gly1353Glu
NM_001146705.2:c.4151G>A NP_001140177.1:p.Gly1384Glu