Canonical Allele Identifier: CA414844236
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707935A>T , CM000686.2:g.19707935A>T GRCh38
NC_000024.9:g.21869821A>T , CM000686.1:g.21869821A>T GRCh37
NC_000024.8:g.20329209A>T NCBI36
NG_032920.1:g.42005T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3398T>A MANE Select ENSP00000322408.4:p.Val1133Glu
ENST00000317961.8:c.3398T>A ENSP00000322408.4:p.Val1133Glu
ENST00000382806.6:c.3227T>A ENSP00000372256.2:p.Val1076Glu
ENST00000415360.1:c.314T>A ENSP00000389433.1:p.Val105Glu
ENST00000440077.5:c.3275T>A ENSP00000398543.1:p.Val1092Glu
ENST00000469599.6:n.1996T>A
ENST00000492117.1:n.3290T>A
ENST00000541639.5:c.3491T>A ENSP00000444293.1:p.Val1164Glu
NM_001146705.1:c.3491T>A NP_001140177.1:p.Val1164Glu
NM_001146706.1:c.3227T>A NP_001140178.1:p.Val1076Glu
NM_004653.4:c.3398T>A NP_004644.2:p.Val1133Glu
XM_005262560.1:c.3263T>A XP_005262617.1:p.Val1088Glu
XM_005262561.1:c.3167T>A XP_005262618.1:p.Val1056Glu
XM_011531468.1:c.3320T>A XP_011529770.1:p.Val1107Glu
XR_244571.2:n.3686T>A
XR_430568.2:n.4020T>A
XM_005262560.3:c.3263T>A XP_005262617.1:p.Val1088Glu
XM_005262561.3:c.3167T>A XP_005262618.1:p.Val1056Glu
XM_011531468.3:c.3320T>A XP_011529770.1:p.Val1107Glu
XM_024452495.1:c.1388T>A XP_024308263.1:p.Val463Glu
XM_024452496.1:c.1154T>A XP_024308264.1:p.Val385Glu
XR_001756009.2:n.4136T>A
XR_001756010.2:n.4136T>A
XR_001756011.2:n.4001T>A
XR_001756012.2:n.4149T>A
XR_001756013.2:n.3467T>A
XR_002958832.1:n.3568T>A
XR_002958834.1:n.3792T>A
XR_002958835.1:n.3675T>A
XR_002958836.1:n.4358T>A
XR_002958837.1:n.4165T>A
XR_244571.4:n.3685T>A
XR_430568.4:n.4019T>A
NM_001146706.2:c.3227T>A NP_001140178.1:p.Val1076Glu
NM_004653.5:c.3398T>A MANE Select NP_004644.2:p.Val1133Glu
NM_001146705.2:c.3491T>A NP_001140177.1:p.Val1164Glu