Canonical Allele Identifier: CA414841894
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706806C>T , CM000686.2:g.19706806C>T GRCh38
NC_000024.9:g.21868692C>T , CM000686.1:g.21868692C>T GRCh37
NC_000024.8:g.20328080C>T NCBI36
NG_032920.1:g.43134G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4057G>A MANE Select ENSP00000322408.4:p.Gly1353Arg
ENST00000317961.8:c.4057G>A ENSP00000322408.4:p.Gly1353Arg
ENST00000382806.6:c.3886G>A ENSP00000372256.2:p.Gly1296Arg
ENST00000440077.5:c.3934G>A ENSP00000398543.1:p.Gly1312Arg
ENST00000469599.6:n.2655G>A
ENST00000492117.1:n.3949G>A
ENST00000541639.5:c.4150G>A ENSP00000444293.1:p.Gly1384Arg
NM_001146705.1:c.4150G>A NP_001140177.1:p.Gly1384Arg
NM_001146706.1:c.3886G>A NP_001140178.1:p.Gly1296Arg
NM_004653.4:c.4057G>A NP_004644.2:p.Gly1353Arg
XM_005262560.1:c.3922G>A XP_005262617.1:p.Gly1308Arg
XM_005262561.1:c.3826G>A XP_005262618.1:p.Gly1276Arg
XM_011531468.1:c.3979G>A XP_011529770.1:p.Gly1327Arg
XR_244571.2:n.4345G>A
XR_430568.2:n.4679G>A
XM_005262560.3:c.3922G>A XP_005262617.1:p.Gly1308Arg
XM_005262561.3:c.3826G>A XP_005262618.1:p.Gly1276Arg
XM_011531468.3:c.3979G>A XP_011529770.1:p.Gly1327Arg
XM_024452495.1:c.2047G>A XP_024308263.1:p.Gly683Arg
XM_024452496.1:c.1813G>A XP_024308264.1:p.Gly605Arg
XR_001756009.2:n.4795G>A
XR_001756010.2:n.4795G>A
XR_001756011.2:n.4660G>A
XR_001756012.2:n.4808G>A
XR_001756013.2:n.4126G>A
XR_002958832.1:n.4227G>A
XR_002958834.1:n.4451G>A
XR_002958835.1:n.4334G>A
XR_002958836.1:n.5017G>A
XR_002958837.1:n.4824G>A
XR_244571.4:n.4344G>A
XR_430568.4:n.4678G>A
NM_001146706.2:c.3886G>A NP_001140178.1:p.Gly1296Arg
NM_004653.5:c.4057G>A MANE Select NP_004644.2:p.Gly1353Arg
NM_001146705.2:c.4150G>A NP_001140177.1:p.Gly1384Arg