Canonical Allele Identifier: CA414843755
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707605G>T , CM000686.2:g.19707605G>T GRCh38
NC_000024.9:g.21869491G>T , CM000686.1:g.21869491G>T GRCh37
NC_000024.8:g.20328879G>T NCBI36
NG_032920.1:g.42335C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3541C>A MANE Select ENSP00000322408.4:p.Pro1181Thr
ENST00000317961.8:c.3541C>A ENSP00000322408.4:p.Pro1181Thr
ENST00000382806.6:c.3370C>A ENSP00000372256.2:p.Pro1124Thr
ENST00000415360.1:c.457C>A ENSP00000389433.1:p.Pro153Thr
ENST00000440077.5:c.3418C>A ENSP00000398543.1:p.Pro1140Thr
ENST00000469599.6:n.2139C>A
ENST00000492117.1:n.3433C>A
ENST00000541639.5:c.3634C>A ENSP00000444293.1:p.Pro1212Thr
NM_001146705.1:c.3634C>A NP_001140177.1:p.Pro1212Thr
NM_001146706.1:c.3370C>A NP_001140178.1:p.Pro1124Thr
NM_004653.4:c.3541C>A NP_004644.2:p.Pro1181Thr
XM_005262560.1:c.3406C>A XP_005262617.1:p.Pro1136Thr
XM_005262561.1:c.3310C>A XP_005262618.1:p.Pro1104Thr
XM_011531468.1:c.3463C>A XP_011529770.1:p.Pro1155Thr
XR_244571.2:n.3829C>A
XR_430568.2:n.4163C>A
XM_005262560.3:c.3406C>A XP_005262617.1:p.Pro1136Thr
XM_005262561.3:c.3310C>A XP_005262618.1:p.Pro1104Thr
XM_011531468.3:c.3463C>A XP_011529770.1:p.Pro1155Thr
XM_024452495.1:c.1531C>A XP_024308263.1:p.Pro511Thr
XM_024452496.1:c.1297C>A XP_024308264.1:p.Pro433Thr
XR_001756009.2:n.4279C>A
XR_001756010.2:n.4279C>A
XR_001756011.2:n.4144C>A
XR_001756012.2:n.4292C>A
XR_001756013.2:n.3610C>A
XR_002958832.1:n.3711C>A
XR_002958834.1:n.3935C>A
XR_002958835.1:n.3818C>A
XR_002958836.1:n.4501C>A
XR_002958837.1:n.4308C>A
XR_244571.4:n.3828C>A
XR_430568.4:n.4162C>A
NM_001146706.2:c.3370C>A NP_001140178.1:p.Pro1124Thr
NM_004653.5:c.3541C>A MANE Select NP_004644.2:p.Pro1181Thr
NM_001146705.2:c.3634C>A NP_001140177.1:p.Pro1212Thr