Canonical Allele Identifier: CA414844321
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707960G>A , CM000686.2:g.19707960G>A GRCh38
NC_000024.9:g.21869846G>A , CM000686.1:g.21869846G>A GRCh37
NC_000024.8:g.20329234G>A NCBI36
NG_032920.1:g.41980C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3373C>T MANE Select ENSP00000322408.4:p.Gln1125Ter
ENST00000317961.8:c.3373C>T ENSP00000322408.4:p.Gln1125Ter
ENST00000382806.6:c.3202C>T ENSP00000372256.2:p.Gln1068Ter
ENST00000415360.1:c.289C>T ENSP00000389433.1:p.Gln97Ter
ENST00000440077.5:c.3250C>T ENSP00000398543.1:p.Gln1084Ter
ENST00000469599.6:n.1971C>T
ENST00000492117.1:n.3265C>T
ENST00000541639.5:c.3466C>T ENSP00000444293.1:p.Gln1156Ter
NM_001146705.1:c.3466C>T NP_001140177.1:p.Gln1156Ter
NM_001146706.1:c.3202C>T NP_001140178.1:p.Gln1068Ter
NM_004653.4:c.3373C>T NP_004644.2:p.Gln1125Ter
XM_005262560.1:c.3238C>T XP_005262617.1:p.Gln1080Ter
XM_005262561.1:c.3142C>T XP_005262618.1:p.Gln1048Ter
XM_011531468.1:c.3295C>T XP_011529770.1:p.Gln1099Ter
XR_244571.2:n.3661C>T
XR_430568.2:n.3995C>T
XM_005262560.3:c.3238C>T XP_005262617.1:p.Gln1080Ter
XM_005262561.3:c.3142C>T XP_005262618.1:p.Gln1048Ter
XM_011531468.3:c.3295C>T XP_011529770.1:p.Gln1099Ter
XM_024452495.1:c.1363C>T XP_024308263.1:p.Gln455Ter
XM_024452496.1:c.1129C>T XP_024308264.1:p.Gln377Ter
XR_001756009.2:n.4111C>T
XR_001756010.2:n.4111C>T
XR_001756011.2:n.3976C>T
XR_001756012.2:n.4124C>T
XR_001756013.2:n.3442C>T
XR_002958832.1:n.3543C>T
XR_002958834.1:n.3767C>T
XR_002958835.1:n.3650C>T
XR_002958836.1:n.4333C>T
XR_002958837.1:n.4140C>T
XR_244571.4:n.3660C>T
XR_430568.4:n.3994C>T
NM_001146706.2:c.3202C>T NP_001140178.1:p.Gln1068Ter
NM_004653.5:c.3373C>T MANE Select NP_004644.2:p.Gln1125Ter
NM_001146705.2:c.3466C>T NP_001140177.1:p.Gln1156Ter