Canonical Allele Identifier: CA414844676
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19708043G>T , CM000686.2:g.19708043G>T GRCh38
NC_000024.9:g.21869929G>T , CM000686.1:g.21869929G>T GRCh37
NC_000024.8:g.20329317G>T NCBI36
NG_032920.1:g.41897C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3290C>A MANE Select ENSP00000322408.4:p.Ser1097Ter
ENST00000317961.8:c.3290C>A ENSP00000322408.4:p.Ser1097Ter
ENST00000382806.6:c.3119C>A ENSP00000372256.2:p.Ser1040Ter
ENST00000415360.1:c.206C>A ENSP00000389433.1:p.Ser69Ter
ENST00000440077.5:c.3167C>A ENSP00000398543.1:p.Ser1056Ter
ENST00000469599.6:n.1888C>A
ENST00000492117.1:n.3182C>A
ENST00000541639.5:c.3383C>A ENSP00000444293.1:p.Ser1128Ter
NM_001146705.1:c.3383C>A NP_001140177.1:p.Ser1128Ter
NM_001146706.1:c.3119C>A NP_001140178.1:p.Ser1040Ter
NM_004653.4:c.3290C>A NP_004644.2:p.Ser1097Ter
XM_005262560.1:c.3155C>A XP_005262617.1:p.Ser1052Ter
XM_005262561.1:c.3059C>A XP_005262618.1:p.Ser1020Ter
XM_011531468.1:c.3212C>A XP_011529770.1:p.Ser1071Ter
XR_244571.2:n.3578C>A
XR_430568.2:n.3912C>A
XM_005262560.3:c.3155C>A XP_005262617.1:p.Ser1052Ter
XM_005262561.3:c.3059C>A XP_005262618.1:p.Ser1020Ter
XM_011531468.3:c.3212C>A XP_011529770.1:p.Ser1071Ter
XM_024452495.1:c.1280C>A XP_024308263.1:p.Ser427Ter
XM_024452496.1:c.1046C>A XP_024308264.1:p.Ser349Ter
XR_001756009.2:n.4028C>A
XR_001756010.2:n.4028C>A
XR_001756011.2:n.3893C>A
XR_001756012.2:n.4041C>A
XR_001756013.2:n.3359C>A
XR_002958832.1:n.3460C>A
XR_002958834.1:n.3684C>A
XR_002958835.1:n.3567C>A
XR_002958836.1:n.4250C>A
XR_002958837.1:n.4057C>A
XR_244571.4:n.3577C>A
XR_430568.4:n.3911C>A
NM_001146706.2:c.3119C>A NP_001140178.1:p.Ser1040Ter
NM_004653.5:c.3290C>A MANE Select NP_004644.2:p.Ser1097Ter
NM_001146705.2:c.3383C>A NP_001140177.1:p.Ser1128Ter