Canonical Allele Identifier: CA414843147
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707440G>T , CM000686.2:g.19707440G>T GRCh38
NC_000024.9:g.21869326G>T , CM000686.1:g.21869326G>T GRCh37
NC_000024.8:g.20328714G>T NCBI36
NG_032920.1:g.42500C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3706C>A MANE Select ENSP00000322408.4:p.Arg1236Ser
ENST00000317961.8:c.3706C>A ENSP00000322408.4:p.Arg1236Ser
ENST00000382806.6:c.3535C>A ENSP00000372256.2:p.Arg1179Ser
ENST00000415360.1:c.622C>A ENSP00000389433.1:p.Arg208Ser
ENST00000440077.5:c.3583C>A ENSP00000398543.1:p.Arg1195Ser
ENST00000469599.6:n.2304C>A
ENST00000492117.1:n.3598C>A
ENST00000541639.5:c.3799C>A ENSP00000444293.1:p.Arg1267Ser
NM_001146705.1:c.3799C>A NP_001140177.1:p.Arg1267Ser
NM_001146706.1:c.3535C>A NP_001140178.1:p.Arg1179Ser
NM_004653.4:c.3706C>A NP_004644.2:p.Arg1236Ser
XM_005262560.1:c.3571C>A XP_005262617.1:p.Arg1191Ser
XM_005262561.1:c.3475C>A XP_005262618.1:p.Arg1159Ser
XM_011531468.1:c.3628C>A XP_011529770.1:p.Arg1210Ser
XR_244571.2:n.3994C>A
XR_430568.2:n.4328C>A
XM_005262560.3:c.3571C>A XP_005262617.1:p.Arg1191Ser
XM_005262561.3:c.3475C>A XP_005262618.1:p.Arg1159Ser
XM_011531468.3:c.3628C>A XP_011529770.1:p.Arg1210Ser
XM_024452495.1:c.1696C>A XP_024308263.1:p.Arg566Ser
XM_024452496.1:c.1462C>A XP_024308264.1:p.Arg488Ser
XR_001756009.2:n.4444C>A
XR_001756010.2:n.4444C>A
XR_001756011.2:n.4309C>A
XR_001756012.2:n.4457C>A
XR_001756013.2:n.3775C>A
XR_002958832.1:n.3876C>A
XR_002958834.1:n.4100C>A
XR_002958835.1:n.3983C>A
XR_002958836.1:n.4666C>A
XR_002958837.1:n.4473C>A
XR_244571.4:n.3993C>A
XR_430568.4:n.4327C>A
NM_001146706.2:c.3535C>A NP_001140178.1:p.Arg1179Ser
NM_004653.5:c.3706C>A MANE Select NP_004644.2:p.Arg1236Ser
NM_001146705.2:c.3799C>A NP_001140177.1:p.Arg1267Ser