Canonical Allele Identifier: CA414840130
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706100T>A , CM000686.2:g.19706100T>A GRCh38
NC_000024.9:g.21867986T>A , CM000686.1:g.21867986T>A GRCh37
NC_000024.8:g.20327374T>A NCBI36
NG_032920.1:g.43840A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4515A>T MANE Select ENSP00000322408.4:p.Lys1505Asn
ENST00000317961.8:c.4515A>T ENSP00000322408.4:p.Lys1505Asn
ENST00000382806.6:c.4344A>T ENSP00000372256.2:p.Lys1448Asn
ENST00000440077.5:c.4392A>T ENSP00000398543.1:p.Lys1464Asn
ENST00000469599.6:n.3266A>T
ENST00000492117.1:n.4560A>T
ENST00000541639.5:c.4608A>T ENSP00000444293.1:p.Lys1536Asn
NM_001146705.1:c.4608A>T NP_001140177.1:p.Lys1536Asn
NM_001146706.1:c.4344A>T NP_001140178.1:p.Lys1448Asn
NM_004653.4:c.4515A>T NP_004644.2:p.Lys1505Asn
XM_005262560.1:c.4380A>T XP_005262617.1:p.Lys1460Asn
XM_005262561.1:c.4284A>T XP_005262618.1:p.Lys1428Asn
XM_011531468.1:c.4437A>T XP_011529770.1:p.Lys1479Asn
XR_430568.2:n.5290A>T
XM_005262560.3:c.4380A>T XP_005262617.1:p.Lys1460Asn
XM_005262561.3:c.4284A>T XP_005262618.1:p.Lys1428Asn
XM_011531468.3:c.4437A>T XP_011529770.1:p.Lys1479Asn
XM_024452495.1:c.2505A>T XP_024308263.1:p.Lys835Asn
XM_024452496.1:c.2271A>T XP_024308264.1:p.Lys757Asn
XR_001756009.2:n.5253A>T
XR_001756010.2:n.5221A>T
XR_001756011.2:n.5118A>T
XR_001756012.2:n.5266A>T
XR_001756013.2:n.4584A>T
XR_002958832.1:n.4838A>T
XR_002958834.1:n.4909A>T
XR_002958835.1:n.4792A>T
XR_002958836.1:n.5443A>T
XR_002958837.1:n.5250A>T
XR_244571.4:n.4770A>T
XR_430568.4:n.5289A>T
NM_001146706.2:c.4344A>T NP_001140178.1:p.Lys1448Asn
NM_004653.5:c.4515A>T MANE Select NP_004644.2:p.Lys1505Asn
NM_001146705.2:c.4608A>T NP_001140177.1:p.Lys1536Asn