Canonical Allele Identifier: CA414841904
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706809G>A , CM000686.2:g.19706809G>A GRCh38
NC_000024.9:g.21868695G>A , CM000686.1:g.21868695G>A GRCh37
NC_000024.8:g.20328083G>A NCBI36
NG_032920.1:g.43131C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4054C>T MANE Select ENSP00000322408.4:p.Pro1352Ser
ENST00000317961.8:c.4054C>T ENSP00000322408.4:p.Pro1352Ser
ENST00000382806.6:c.3883C>T ENSP00000372256.2:p.Pro1295Ser
ENST00000440077.5:c.3931C>T ENSP00000398543.1:p.Pro1311Ser
ENST00000469599.6:n.2652C>T
ENST00000492117.1:n.3946C>T
ENST00000541639.5:c.4147C>T ENSP00000444293.1:p.Pro1383Ser
NM_001146705.1:c.4147C>T NP_001140177.1:p.Pro1383Ser
NM_001146706.1:c.3883C>T NP_001140178.1:p.Pro1295Ser
NM_004653.4:c.4054C>T NP_004644.2:p.Pro1352Ser
XM_005262560.1:c.3919C>T XP_005262617.1:p.Pro1307Ser
XM_005262561.1:c.3823C>T XP_005262618.1:p.Pro1275Ser
XM_011531468.1:c.3976C>T XP_011529770.1:p.Pro1326Ser
XR_244571.2:n.4342C>T
XR_430568.2:n.4676C>T
XM_005262560.3:c.3919C>T XP_005262617.1:p.Pro1307Ser
XM_005262561.3:c.3823C>T XP_005262618.1:p.Pro1275Ser
XM_011531468.3:c.3976C>T XP_011529770.1:p.Pro1326Ser
XM_024452495.1:c.2044C>T XP_024308263.1:p.Pro682Ser
XM_024452496.1:c.1810C>T XP_024308264.1:p.Pro604Ser
XR_001756009.2:n.4792C>T
XR_001756010.2:n.4792C>T
XR_001756011.2:n.4657C>T
XR_001756012.2:n.4805C>T
XR_001756013.2:n.4123C>T
XR_002958832.1:n.4224C>T
XR_002958834.1:n.4448C>T
XR_002958835.1:n.4331C>T
XR_002958836.1:n.5014C>T
XR_002958837.1:n.4821C>T
XR_244571.4:n.4341C>T
XR_430568.4:n.4675C>T
NM_001146706.2:c.3883C>T NP_001140178.1:p.Pro1295Ser
NM_004653.5:c.4054C>T MANE Select NP_004644.2:p.Pro1352Ser
NM_001146705.2:c.4147C>T NP_001140177.1:p.Pro1383Ser