Canonical Allele Identifier: CA414840139
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706102T>A , CM000686.2:g.19706102T>A GRCh38
NC_000024.9:g.21867988T>A , CM000686.1:g.21867988T>A GRCh37
NC_000024.8:g.20327376T>A NCBI36
NG_032920.1:g.43838A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4513A>T MANE Select ENSP00000322408.4:p.Lys1505Ter
ENST00000317961.8:c.4513A>T ENSP00000322408.4:p.Lys1505Ter
ENST00000382806.6:c.4342A>T ENSP00000372256.2:p.Lys1448Ter
ENST00000440077.5:c.4390A>T ENSP00000398543.1:p.Lys1464Ter
ENST00000469599.6:n.3264A>T
ENST00000492117.1:n.4558A>T
ENST00000541639.5:c.4606A>T ENSP00000444293.1:p.Lys1536Ter
NM_001146705.1:c.4606A>T NP_001140177.1:p.Lys1536Ter
NM_001146706.1:c.4342A>T NP_001140178.1:p.Lys1448Ter
NM_004653.4:c.4513A>T NP_004644.2:p.Lys1505Ter
XM_005262560.1:c.4378A>T XP_005262617.1:p.Lys1460Ter
XM_005262561.1:c.4282A>T XP_005262618.1:p.Lys1428Ter
XM_011531468.1:c.4435A>T XP_011529770.1:p.Lys1479Ter
XR_430568.2:n.5288A>T
XM_005262560.3:c.4378A>T XP_005262617.1:p.Lys1460Ter
XM_005262561.3:c.4282A>T XP_005262618.1:p.Lys1428Ter
XM_011531468.3:c.4435A>T XP_011529770.1:p.Lys1479Ter
XM_024452495.1:c.2503A>T XP_024308263.1:p.Lys835Ter
XM_024452496.1:c.2269A>T XP_024308264.1:p.Lys757Ter
XR_001756009.2:n.5251A>T
XR_001756010.2:n.5219A>T
XR_001756011.2:n.5116A>T
XR_001756012.2:n.5264A>T
XR_001756013.2:n.4582A>T
XR_002958832.1:n.4836A>T
XR_002958834.1:n.4907A>T
XR_002958835.1:n.4790A>T
XR_002958836.1:n.5441A>T
XR_002958837.1:n.5248A>T
XR_244571.4:n.4768A>T
XR_430568.4:n.5287A>T
NM_001146706.2:c.4342A>T NP_001140178.1:p.Lys1448Ter
NM_004653.5:c.4513A>T MANE Select NP_004644.2:p.Lys1505Ter
NM_001146705.2:c.4606A>T NP_001140177.1:p.Lys1536Ter