Canonical Allele Identifier: CA414841940
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706817T>G , CM000686.2:g.19706817T>G GRCh38
NC_000024.9:g.21868703T>G , CM000686.1:g.21868703T>G GRCh37
NC_000024.8:g.20328091T>G NCBI36
NG_032920.1:g.43123A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4046A>C MANE Select ENSP00000322408.4:p.Asn1349Thr
ENST00000317961.8:c.4046A>C ENSP00000322408.4:p.Asn1349Thr
ENST00000382806.6:c.3875A>C ENSP00000372256.2:p.Asn1292Thr
ENST00000440077.5:c.3923A>C ENSP00000398543.1:p.Asn1308Thr
ENST00000469599.6:n.2644A>C
ENST00000492117.1:n.3938A>C
ENST00000541639.5:c.4139A>C ENSP00000444293.1:p.Asn1380Thr
NM_001146705.1:c.4139A>C NP_001140177.1:p.Asn1380Thr
NM_001146706.1:c.3875A>C NP_001140178.1:p.Asn1292Thr
NM_004653.4:c.4046A>C NP_004644.2:p.Asn1349Thr
XM_005262560.1:c.3911A>C XP_005262617.1:p.Asn1304Thr
XM_005262561.1:c.3815A>C XP_005262618.1:p.Asn1272Thr
XM_011531468.1:c.3968A>C XP_011529770.1:p.Asn1323Thr
XR_244571.2:n.4334A>C
XR_430568.2:n.4668A>C
XM_005262560.3:c.3911A>C XP_005262617.1:p.Asn1304Thr
XM_005262561.3:c.3815A>C XP_005262618.1:p.Asn1272Thr
XM_011531468.3:c.3968A>C XP_011529770.1:p.Asn1323Thr
XM_024452495.1:c.2036A>C XP_024308263.1:p.Asn679Thr
XM_024452496.1:c.1802A>C XP_024308264.1:p.Asn601Thr
XR_001756009.2:n.4784A>C
XR_001756010.2:n.4784A>C
XR_001756011.2:n.4649A>C
XR_001756012.2:n.4797A>C
XR_001756013.2:n.4115A>C
XR_002958832.1:n.4216A>C
XR_002958834.1:n.4440A>C
XR_002958835.1:n.4323A>C
XR_002958836.1:n.5006A>C
XR_002958837.1:n.4813A>C
XR_244571.4:n.4333A>C
XR_430568.4:n.4667A>C
NM_001146706.2:c.3875A>C NP_001140178.1:p.Asn1292Thr
NM_004653.5:c.4046A>C MANE Select NP_004644.2:p.Asn1349Thr
NM_001146705.2:c.4139A>C NP_001140177.1:p.Asn1380Thr