Canonical Allele Identifier: CA414840010
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706072C>G , CM000686.2:g.19706072C>G GRCh38
NC_000024.9:g.21867958C>G , CM000686.1:g.21867958C>G GRCh37
NC_000024.8:g.20327346C>G NCBI36
NG_032920.1:g.43868G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4543G>C MANE Select ENSP00000322408.4:p.Asp1515His
ENST00000317961.8:c.4543G>C ENSP00000322408.4:p.Asp1515His
ENST00000382806.6:c.4372G>C ENSP00000372256.2:p.Asp1458His
ENST00000440077.5:c.4420G>C ENSP00000398543.1:p.Asp1474His
ENST00000469599.6:n.3294G>C
ENST00000492117.1:n.4588G>C
ENST00000541639.5:c.4636G>C ENSP00000444293.1:p.Asp1546His
NM_001146705.1:c.4636G>C NP_001140177.1:p.Asp1546His
NM_001146706.1:c.4372G>C NP_001140178.1:p.Asp1458His
NM_004653.4:c.4543G>C NP_004644.2:p.Asp1515His
XM_005262560.1:c.4408G>C XP_005262617.1:p.Asp1470His
XM_005262561.1:c.4312G>C XP_005262618.1:p.Asp1438His
XM_011531468.1:c.4465G>C XP_011529770.1:p.Asp1489His
XR_430568.2:n.5318G>C
XM_005262560.3:c.4408G>C XP_005262617.1:p.Asp1470His
XM_005262561.3:c.4312G>C XP_005262618.1:p.Asp1438His
XM_011531468.3:c.4465G>C XP_011529770.1:p.Asp1489His
XM_024452495.1:c.2533G>C XP_024308263.1:p.Asp845His
XM_024452496.1:c.2299G>C XP_024308264.1:p.Asp767His
XR_001756009.2:n.5281G>C
XR_001756010.2:n.5249G>C
XR_001756011.2:n.5146G>C
XR_001756012.2:n.5294G>C
XR_001756013.2:n.4612G>C
XR_002958832.1:n.4866G>C
XR_002958834.1:n.4937G>C
XR_002958835.1:n.4820G>C
XR_002958836.1:n.5471G>C
XR_002958837.1:n.5278G>C
XR_244571.4:n.4798G>C
XR_430568.4:n.5317G>C
NM_001146706.2:c.4372G>C NP_001140178.1:p.Asp1458His
NM_004653.5:c.4543G>C MANE Select NP_004644.2:p.Asp1515His
NM_001146705.2:c.4636G>C NP_001140177.1:p.Asp1546His