Canonical Allele Identifier: CA414843970
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707667C>T , CM000686.2:g.19707667C>T GRCh38
NC_000024.9:g.21869553C>T , CM000686.1:g.21869553C>T GRCh37
NC_000024.8:g.20328941C>T NCBI36
NG_032920.1:g.42273G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3479G>A MANE Select ENSP00000322408.4:p.Ser1160Asn
ENST00000317961.8:c.3479G>A ENSP00000322408.4:p.Ser1160Asn
ENST00000382806.6:c.3308G>A ENSP00000372256.2:p.Ser1103Asn
ENST00000415360.1:c.395G>A ENSP00000389433.1:p.Ser132Asn
ENST00000440077.5:c.3356G>A ENSP00000398543.1:p.Ser1119Asn
ENST00000469599.6:n.2077G>A
ENST00000492117.1:n.3371G>A
ENST00000541639.5:c.3572G>A ENSP00000444293.1:p.Ser1191Asn
NM_001146705.1:c.3572G>A NP_001140177.1:p.Ser1191Asn
NM_001146706.1:c.3308G>A NP_001140178.1:p.Ser1103Asn
NM_004653.4:c.3479G>A NP_004644.2:p.Ser1160Asn
XM_005262560.1:c.3344G>A XP_005262617.1:p.Ser1115Asn
XM_005262561.1:c.3248G>A XP_005262618.1:p.Ser1083Asn
XM_011531468.1:c.3401G>A XP_011529770.1:p.Ser1134Asn
XR_244571.2:n.3767G>A
XR_430568.2:n.4101G>A
XM_005262560.3:c.3344G>A XP_005262617.1:p.Ser1115Asn
XM_005262561.3:c.3248G>A XP_005262618.1:p.Ser1083Asn
XM_011531468.3:c.3401G>A XP_011529770.1:p.Ser1134Asn
XM_024452495.1:c.1469G>A XP_024308263.1:p.Ser490Asn
XM_024452496.1:c.1235G>A XP_024308264.1:p.Ser412Asn
XR_001756009.2:n.4217G>A
XR_001756010.2:n.4217G>A
XR_001756011.2:n.4082G>A
XR_001756012.2:n.4230G>A
XR_001756013.2:n.3548G>A
XR_002958832.1:n.3649G>A
XR_002958834.1:n.3873G>A
XR_002958835.1:n.3756G>A
XR_002958836.1:n.4439G>A
XR_002958837.1:n.4246G>A
XR_244571.4:n.3766G>A
XR_430568.4:n.4100G>A
NM_001146706.2:c.3308G>A NP_001140178.1:p.Ser1103Asn
NM_004653.5:c.3479G>A MANE Select NP_004644.2:p.Ser1160Asn
NM_001146705.2:c.3572G>A NP_001140177.1:p.Ser1191Asn