Canonical Allele Identifier: CA414842076
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19732706C>T , CM000686.2:g.19732706C>T GRCh38
NC_000024.9:g.21894592C>T , CM000686.1:g.21894592C>T GRCh37
NC_000024.8:g.20353980C>T NCBI36
NG_032920.1:g.17234G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.970G>A MANE Select ENSP00000322408.4:p.Asp324Asn
ENST00000317961.8:c.970G>A ENSP00000322408.4:p.Asp324Asn
ENST00000382806.6:c.799G>A ENSP00000372256.2:p.Asp267Asn
ENST00000440077.5:c.847G>A ENSP00000398543.1:p.Asp283Asn
ENST00000447300.1:c.835G>A ENSP00000416377.1:p.Asp279Asn
ENST00000541639.5:c.970G>A ENSP00000444293.1:p.Asp324Asn
NM_001146705.1:c.970G>A NP_001140177.1:p.Asp324Asn
NM_001146706.1:c.799G>A NP_001140178.1:p.Asp267Asn
NM_004653.4:c.970G>A NP_004644.2:p.Asp324Asn
XM_005262560.1:c.835G>A XP_005262617.1:p.Asp279Asn
XM_005262561.1:c.970G>A XP_005262618.1:p.Asp324Asn
XM_005262562.2:c.970G>A XP_005262619.1:p.Asp324Asn
XM_011531468.1:c.970G>A XP_011529770.1:p.Asp324Asn
XR_244571.2:n.1258G>A
XR_430568.2:n.1258G>A
XR_938609.1:n.1258G>A
XR_938610.1:n.1258G>A
XM_005262560.3:c.835G>A XP_005262617.1:p.Asp279Asn
XM_005262561.3:c.970G>A XP_005262618.1:p.Asp324Asn
XM_011531468.3:c.970G>A XP_011529770.1:p.Asp324Asn
XM_024452495.1:c.-1148G>A XP_024308263.1:n.-1148G>A
XR_001756009.2:n.1257G>A
XR_001756010.2:n.1257G>A
XR_001756011.2:n.1122G>A
XR_001756012.2:n.1257G>A
XR_001756013.2:n.1257G>A
XR_002958832.1:n.1257G>A
XR_002958833.1:n.1257G>A
XR_002958834.1:n.1257G>A
XR_002958835.1:n.1257G>A
XR_002958836.1:n.1257G>A
XR_002958837.1:n.1257G>A
XR_244571.4:n.1257G>A
XR_430568.4:n.1257G>A
NM_001146706.2:c.799G>A NP_001140178.1:p.Asp267Asn
NM_004653.5:c.970G>A MANE Select NP_004644.2:p.Asp324Asn
NM_001146705.2:c.970G>A NP_001140177.1:p.Asp324Asn