Canonical Allele Identifier: CA414841920
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706813C>T , CM000686.2:g.19706813C>T GRCh38
NC_000024.9:g.21868699C>T , CM000686.1:g.21868699C>T GRCh37
NC_000024.8:g.20328087C>T NCBI36
NG_032920.1:g.43127G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000317961.9:c.4050G>A MANE Select ENSP00000322408.4:p.Met1350Ile
ENST00000317961.8:c.4050G>A ENSP00000322408.4:p.Met1350Ile
ENST00000382806.6:c.3879G>A ENSP00000372256.2:p.Met1293Ile
ENST00000440077.5:c.3927G>A ENSP00000398543.1:p.Met1309Ile
ENST00000469599.6:n.2648G>A
ENST00000492117.1:n.3942G>A
ENST00000541639.5:c.4143G>A ENSP00000444293.1:p.Met1381Ile
NM_001146705.1:c.4143G>A NP_001140177.1:p.Met1381Ile
NM_001146706.1:c.3879G>A NP_001140178.1:p.Met1293Ile
NM_004653.4:c.4050G>A NP_004644.2:p.Met1350Ile
XM_005262560.1:c.3915G>A XP_005262617.1:p.Met1305Ile
XM_005262561.1:c.3819G>A XP_005262618.1:p.Met1273Ile
XM_011531468.1:c.3972G>A XP_011529770.1:p.Met1324Ile
XR_244571.2:n.4338G>A
XR_430568.2:n.4672G>A
XM_005262560.3:c.3915G>A XP_005262617.1:p.Met1305Ile
XM_005262561.3:c.3819G>A XP_005262618.1:p.Met1273Ile
XM_011531468.3:c.3972G>A XP_011529770.1:p.Met1324Ile
XM_024452495.1:c.2040G>A XP_024308263.1:p.Met680Ile
XM_024452496.1:c.1806G>A XP_024308264.1:p.Met602Ile
XR_001756009.2:n.4788G>A
XR_001756010.2:n.4788G>A
XR_001756011.2:n.4653G>A
XR_001756012.2:n.4801G>A
XR_001756013.2:n.4119G>A
XR_002958832.1:n.4220G>A
XR_002958834.1:n.4444G>A
XR_002958835.1:n.4327G>A
XR_002958836.1:n.5010G>A
XR_002958837.1:n.4817G>A
XR_244571.4:n.4337G>A
XR_430568.4:n.4671G>A
NM_001146706.2:c.3879G>A NP_001140178.1:p.Met1293Ile
NM_004653.5:c.4050G>A MANE Select NP_004644.2:p.Met1350Ile
NM_001146705.2:c.4143G>A NP_001140177.1:p.Met1381Ile