Canonical Allele Identifier: CA414843681
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707584G>A , CM000686.2:g.19707584G>A GRCh38
NC_000024.9:g.21869470G>A , CM000686.1:g.21869470G>A GRCh37
NC_000024.8:g.20328858G>A NCBI36
NG_032920.1:g.42356C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3562C>T MANE Select ENSP00000322408.4:p.Gln1188Ter
ENST00000317961.8:c.3562C>T ENSP00000322408.4:p.Gln1188Ter
ENST00000382806.6:c.3391C>T ENSP00000372256.2:p.Gln1131Ter
ENST00000415360.1:c.478C>T ENSP00000389433.1:p.Gln160Ter
ENST00000440077.5:c.3439C>T ENSP00000398543.1:p.Gln1147Ter
ENST00000469599.6:n.2160C>T
ENST00000492117.1:n.3454C>T
ENST00000541639.5:c.3655C>T ENSP00000444293.1:p.Gln1219Ter
NM_001146705.1:c.3655C>T NP_001140177.1:p.Gln1219Ter
NM_001146706.1:c.3391C>T NP_001140178.1:p.Gln1131Ter
NM_004653.4:c.3562C>T NP_004644.2:p.Gln1188Ter
XM_005262560.1:c.3427C>T XP_005262617.1:p.Gln1143Ter
XM_005262561.1:c.3331C>T XP_005262618.1:p.Gln1111Ter
XM_011531468.1:c.3484C>T XP_011529770.1:p.Gln1162Ter
XR_244571.2:n.3850C>T
XR_430568.2:n.4184C>T
XM_005262560.3:c.3427C>T XP_005262617.1:p.Gln1143Ter
XM_005262561.3:c.3331C>T XP_005262618.1:p.Gln1111Ter
XM_011531468.3:c.3484C>T XP_011529770.1:p.Gln1162Ter
XM_024452495.1:c.1552C>T XP_024308263.1:p.Gln518Ter
XM_024452496.1:c.1318C>T XP_024308264.1:p.Gln440Ter
XR_001756009.2:n.4300C>T
XR_001756010.2:n.4300C>T
XR_001756011.2:n.4165C>T
XR_001756012.2:n.4313C>T
XR_001756013.2:n.3631C>T
XR_002958832.1:n.3732C>T
XR_002958834.1:n.3956C>T
XR_002958835.1:n.3839C>T
XR_002958836.1:n.4522C>T
XR_002958837.1:n.4329C>T
XR_244571.4:n.3849C>T
XR_430568.4:n.4183C>T
NM_001146706.2:c.3391C>T NP_001140178.1:p.Gln1131Ter
NM_004653.5:c.3562C>T MANE Select NP_004644.2:p.Gln1188Ter
NM_001146705.2:c.3655C>T NP_001140177.1:p.Gln1219Ter