Canonical Allele Identifier: CA414840382
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706165G>A , CM000686.2:g.19706165G>A GRCh38
NC_000024.9:g.21868051G>A , CM000686.1:g.21868051G>A GRCh37
NC_000024.8:g.20327439G>A NCBI36
NG_032920.1:g.43775C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4450C>T MANE Select ENSP00000322408.4:p.Gln1484Ter
ENST00000317961.8:c.4450C>T ENSP00000322408.4:p.Gln1484Ter
ENST00000382806.6:c.4279C>T ENSP00000372256.2:p.Gln1427Ter
ENST00000440077.5:c.4327C>T ENSP00000398543.1:p.Gln1443Ter
ENST00000469599.6:n.3201C>T
ENST00000492117.1:n.4495C>T
ENST00000541639.5:c.4543C>T ENSP00000444293.1:p.Gln1515Ter
NM_001146705.1:c.4543C>T NP_001140177.1:p.Gln1515Ter
NM_001146706.1:c.4279C>T NP_001140178.1:p.Gln1427Ter
NM_004653.4:c.4450C>T NP_004644.2:p.Gln1484Ter
XM_005262560.1:c.4315C>T XP_005262617.1:p.Gln1439Ter
XM_005262561.1:c.4219C>T XP_005262618.1:p.Gln1407Ter
XM_011531468.1:c.4372C>T XP_011529770.1:p.Gln1458Ter
XR_430568.2:n.5225C>T
XM_005262560.3:c.4315C>T XP_005262617.1:p.Gln1439Ter
XM_005262561.3:c.4219C>T XP_005262618.1:p.Gln1407Ter
XM_011531468.3:c.4372C>T XP_011529770.1:p.Gln1458Ter
XM_024452495.1:c.2440C>T XP_024308263.1:p.Gln814Ter
XM_024452496.1:c.2206C>T XP_024308264.1:p.Gln736Ter
XR_001756009.2:n.5188C>T
XR_001756010.2:n.5156C>T
XR_001756011.2:n.5053C>T
XR_001756012.2:n.5201C>T
XR_001756013.2:n.4519C>T
XR_002958832.1:n.4773C>T
XR_002958834.1:n.4844C>T
XR_002958835.1:n.4727C>T
XR_002958836.1:n.5378C>T
XR_002958837.1:n.5185C>T
XR_244571.4:n.4705C>T
XR_430568.4:n.5224C>T
NM_001146706.2:c.4279C>T NP_001140178.1:p.Gln1427Ter
NM_004653.5:c.4450C>T MANE Select NP_004644.2:p.Gln1484Ter
NM_001146705.2:c.4543C>T NP_001140177.1:p.Gln1515Ter