Canonical Allele Identifier: CA414841855
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706794C>T , CM000686.2:g.19706794C>T GRCh38
NC_000024.9:g.21868680C>T , CM000686.1:g.21868680C>T GRCh37
NC_000024.8:g.20328068C>T NCBI36
NG_032920.1:g.43146G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4069G>A MANE Select ENSP00000322408.4:p.Asp1357Asn
ENST00000317961.8:c.4069G>A ENSP00000322408.4:p.Asp1357Asn
ENST00000382806.6:c.3898G>A ENSP00000372256.2:p.Asp1300Asn
ENST00000440077.5:c.3946G>A ENSP00000398543.1:p.Asp1316Asn
ENST00000469599.6:n.2667G>A
ENST00000492117.1:n.3961G>A
ENST00000541639.5:c.4162G>A ENSP00000444293.1:p.Asp1388Asn
NM_001146705.1:c.4162G>A NP_001140177.1:p.Asp1388Asn
NM_001146706.1:c.3898G>A NP_001140178.1:p.Asp1300Asn
NM_004653.4:c.4069G>A NP_004644.2:p.Asp1357Asn
XM_005262560.1:c.3934G>A XP_005262617.1:p.Asp1312Asn
XM_005262561.1:c.3838G>A XP_005262618.1:p.Asp1280Asn
XM_011531468.1:c.3991G>A XP_011529770.1:p.Asp1331Asn
XR_244571.2:n.4357G>A
XR_430568.2:n.4691G>A
XM_005262560.3:c.3934G>A XP_005262617.1:p.Asp1312Asn
XM_005262561.3:c.3838G>A XP_005262618.1:p.Asp1280Asn
XM_011531468.3:c.3991G>A XP_011529770.1:p.Asp1331Asn
XM_024452495.1:c.2059G>A XP_024308263.1:p.Asp687Asn
XM_024452496.1:c.1825G>A XP_024308264.1:p.Asp609Asn
XR_001756009.2:n.4807G>A
XR_001756010.2:n.4807G>A
XR_001756011.2:n.4672G>A
XR_001756012.2:n.4820G>A
XR_001756013.2:n.4138G>A
XR_002958832.1:n.4239G>A
XR_002958834.1:n.4463G>A
XR_002958835.1:n.4346G>A
XR_002958836.1:n.5029G>A
XR_002958837.1:n.4836G>A
XR_244571.4:n.4356G>A
XR_430568.4:n.4690G>A
NM_001146706.2:c.3898G>A NP_001140178.1:p.Asp1300Asn
NM_004653.5:c.4069G>A MANE Select NP_004644.2:p.Asp1357Asn
NM_001146705.2:c.4162G>A NP_001140177.1:p.Asp1388Asn