Canonical Allele Identifier: CA414844396
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707984T>A , CM000686.2:g.19707984T>A GRCh38
NC_000024.9:g.21869870T>A , CM000686.1:g.21869870T>A GRCh37
NC_000024.8:g.20329258T>A NCBI36
NG_032920.1:g.41956A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3349A>T MANE Select ENSP00000322408.4:p.Thr1117Ser
ENST00000317961.8:c.3349A>T ENSP00000322408.4:p.Thr1117Ser
ENST00000382806.6:c.3178A>T ENSP00000372256.2:p.Thr1060Ser
ENST00000415360.1:c.265A>T ENSP00000389433.1:p.Thr89Ser
ENST00000440077.5:c.3226A>T ENSP00000398543.1:p.Thr1076Ser
ENST00000469599.6:n.1947A>T
ENST00000492117.1:n.3241A>T
ENST00000541639.5:c.3442A>T ENSP00000444293.1:p.Thr1148Ser
NM_001146705.1:c.3442A>T NP_001140177.1:p.Thr1148Ser
NM_001146706.1:c.3178A>T NP_001140178.1:p.Thr1060Ser
NM_004653.4:c.3349A>T NP_004644.2:p.Thr1117Ser
XM_005262560.1:c.3214A>T XP_005262617.1:p.Thr1072Ser
XM_005262561.1:c.3118A>T XP_005262618.1:p.Thr1040Ser
XM_011531468.1:c.3271A>T XP_011529770.1:p.Thr1091Ser
XR_244571.2:n.3637A>T
XR_430568.2:n.3971A>T
XM_005262560.3:c.3214A>T XP_005262617.1:p.Thr1072Ser
XM_005262561.3:c.3118A>T XP_005262618.1:p.Thr1040Ser
XM_011531468.3:c.3271A>T XP_011529770.1:p.Thr1091Ser
XM_024452495.1:c.1339A>T XP_024308263.1:p.Thr447Ser
XM_024452496.1:c.1105A>T XP_024308264.1:p.Thr369Ser
XR_001756009.2:n.4087A>T
XR_001756010.2:n.4087A>T
XR_001756011.2:n.3952A>T
XR_001756012.2:n.4100A>T
XR_001756013.2:n.3418A>T
XR_002958832.1:n.3519A>T
XR_002958834.1:n.3743A>T
XR_002958835.1:n.3626A>T
XR_002958836.1:n.4309A>T
XR_002958837.1:n.4116A>T
XR_244571.4:n.3636A>T
XR_430568.4:n.3970A>T
NM_001146706.2:c.3178A>T NP_001140178.1:p.Thr1060Ser
NM_004653.5:c.3349A>T MANE Select NP_004644.2:p.Thr1117Ser
NM_001146705.2:c.3442A>T NP_001140177.1:p.Thr1148Ser