Canonical Allele Identifier: CA414843595
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707565T>A , CM000686.2:g.19707565T>A GRCh38
NC_000024.9:g.21869451T>A , CM000686.1:g.21869451T>A GRCh37
NC_000024.8:g.20328839T>A NCBI36
NG_032920.1:g.42375A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3581A>T MANE Select ENSP00000322408.4:p.Asp1194Val
ENST00000317961.8:c.3581A>T ENSP00000322408.4:p.Asp1194Val
ENST00000382806.6:c.3410A>T ENSP00000372256.2:p.Asp1137Val
ENST00000415360.1:c.497A>T ENSP00000389433.1:p.Asp166Val
ENST00000440077.5:c.3458A>T ENSP00000398543.1:p.Asp1153Val
ENST00000469599.6:n.2179A>T
ENST00000492117.1:n.3473A>T
ENST00000541639.5:c.3674A>T ENSP00000444293.1:p.Asp1225Val
NM_001146705.1:c.3674A>T NP_001140177.1:p.Asp1225Val
NM_001146706.1:c.3410A>T NP_001140178.1:p.Asp1137Val
NM_004653.4:c.3581A>T NP_004644.2:p.Asp1194Val
XM_005262560.1:c.3446A>T XP_005262617.1:p.Asp1149Val
XM_005262561.1:c.3350A>T XP_005262618.1:p.Asp1117Val
XM_011531468.1:c.3503A>T XP_011529770.1:p.Asp1168Val
XR_244571.2:n.3869A>T
XR_430568.2:n.4203A>T
XM_005262560.3:c.3446A>T XP_005262617.1:p.Asp1149Val
XM_005262561.3:c.3350A>T XP_005262618.1:p.Asp1117Val
XM_011531468.3:c.3503A>T XP_011529770.1:p.Asp1168Val
XM_024452495.1:c.1571A>T XP_024308263.1:p.Asp524Val
XM_024452496.1:c.1337A>T XP_024308264.1:p.Asp446Val
XR_001756009.2:n.4319A>T
XR_001756010.2:n.4319A>T
XR_001756011.2:n.4184A>T
XR_001756012.2:n.4332A>T
XR_001756013.2:n.3650A>T
XR_002958832.1:n.3751A>T
XR_002958834.1:n.3975A>T
XR_002958835.1:n.3858A>T
XR_002958836.1:n.4541A>T
XR_002958837.1:n.4348A>T
XR_244571.4:n.3868A>T
XR_430568.4:n.4202A>T
NM_001146706.2:c.3410A>T NP_001140178.1:p.Asp1137Val
NM_004653.5:c.3581A>T MANE Select NP_004644.2:p.Asp1194Val
NM_001146705.2:c.3674A>T NP_001140177.1:p.Asp1225Val