Canonical Allele Identifier: CA414843439
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707524T>A , CM000686.2:g.19707524T>A GRCh38
NC_000024.9:g.21869410T>A , CM000686.1:g.21869410T>A GRCh37
NC_000024.8:g.20328798T>A NCBI36
NG_032920.1:g.42416A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3622A>T MANE Select ENSP00000322408.4:p.Thr1208Ser
ENST00000317961.8:c.3622A>T ENSP00000322408.4:p.Thr1208Ser
ENST00000382806.6:c.3451A>T ENSP00000372256.2:p.Thr1151Ser
ENST00000415360.1:c.538A>T ENSP00000389433.1:p.Thr180Ser
ENST00000440077.5:c.3499A>T ENSP00000398543.1:p.Thr1167Ser
ENST00000469599.6:n.2220A>T
ENST00000492117.1:n.3514A>T
ENST00000541639.5:c.3715A>T ENSP00000444293.1:p.Thr1239Ser
NM_001146705.1:c.3715A>T NP_001140177.1:p.Thr1239Ser
NM_001146706.1:c.3451A>T NP_001140178.1:p.Thr1151Ser
NM_004653.4:c.3622A>T NP_004644.2:p.Thr1208Ser
XM_005262560.1:c.3487A>T XP_005262617.1:p.Thr1163Ser
XM_005262561.1:c.3391A>T XP_005262618.1:p.Thr1131Ser
XM_011531468.1:c.3544A>T XP_011529770.1:p.Thr1182Ser
XR_244571.2:n.3910A>T
XR_430568.2:n.4244A>T
XM_005262560.3:c.3487A>T XP_005262617.1:p.Thr1163Ser
XM_005262561.3:c.3391A>T XP_005262618.1:p.Thr1131Ser
XM_011531468.3:c.3544A>T XP_011529770.1:p.Thr1182Ser
XM_024452495.1:c.1612A>T XP_024308263.1:p.Thr538Ser
XM_024452496.1:c.1378A>T XP_024308264.1:p.Thr460Ser
XR_001756009.2:n.4360A>T
XR_001756010.2:n.4360A>T
XR_001756011.2:n.4225A>T
XR_001756012.2:n.4373A>T
XR_001756013.2:n.3691A>T
XR_002958832.1:n.3792A>T
XR_002958834.1:n.4016A>T
XR_002958835.1:n.3899A>T
XR_002958836.1:n.4582A>T
XR_002958837.1:n.4389A>T
XR_244571.4:n.3909A>T
XR_430568.4:n.4243A>T
NM_001146706.2:c.3451A>T NP_001140178.1:p.Thr1151Ser
NM_004653.5:c.3622A>T MANE Select NP_004644.2:p.Thr1208Ser
NM_001146705.2:c.3715A>T NP_001140177.1:p.Thr1239Ser