Canonical Allele Identifier: CA414840337
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706153C>T , CM000686.2:g.19706153C>T GRCh38
NC_000024.9:g.21868039C>T , CM000686.1:g.21868039C>T GRCh37
NC_000024.8:g.20327427C>T NCBI36
NG_032920.1:g.43787G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4462G>A MANE Select ENSP00000322408.4:p.Asp1488Asn
ENST00000317961.8:c.4462G>A ENSP00000322408.4:p.Asp1488Asn
ENST00000382806.6:c.4291G>A ENSP00000372256.2:p.Asp1431Asn
ENST00000440077.5:c.4339G>A ENSP00000398543.1:p.Asp1447Asn
ENST00000469599.6:n.3213G>A
ENST00000492117.1:n.4507G>A
ENST00000541639.5:c.4555G>A ENSP00000444293.1:p.Asp1519Asn
NM_001146705.1:c.4555G>A NP_001140177.1:p.Asp1519Asn
NM_001146706.1:c.4291G>A NP_001140178.1:p.Asp1431Asn
NM_004653.4:c.4462G>A NP_004644.2:p.Asp1488Asn
XM_005262560.1:c.4327G>A XP_005262617.1:p.Asp1443Asn
XM_005262561.1:c.4231G>A XP_005262618.1:p.Asp1411Asn
XM_011531468.1:c.4384G>A XP_011529770.1:p.Asp1462Asn
XR_430568.2:n.5237G>A
XM_005262560.3:c.4327G>A XP_005262617.1:p.Asp1443Asn
XM_005262561.3:c.4231G>A XP_005262618.1:p.Asp1411Asn
XM_011531468.3:c.4384G>A XP_011529770.1:p.Asp1462Asn
XM_024452495.1:c.2452G>A XP_024308263.1:p.Asp818Asn
XM_024452496.1:c.2218G>A XP_024308264.1:p.Asp740Asn
XR_001756009.2:n.5200G>A
XR_001756010.2:n.5168G>A
XR_001756011.2:n.5065G>A
XR_001756012.2:n.5213G>A
XR_001756013.2:n.4531G>A
XR_002958832.1:n.4785G>A
XR_002958834.1:n.4856G>A
XR_002958835.1:n.4739G>A
XR_002958836.1:n.5390G>A
XR_002958837.1:n.5197G>A
XR_244571.4:n.4717G>A
XR_430568.4:n.5236G>A
NM_001146706.2:c.4291G>A NP_001140178.1:p.Asp1431Asn
NM_004653.5:c.4462G>A MANE Select NP_004644.2:p.Asp1488Asn
NM_001146705.2:c.4555G>A NP_001140177.1:p.Asp1519Asn