Canonical Allele Identifier: CA414841946
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706818T>C , CM000686.2:g.19706818T>C GRCh38
NC_000024.9:g.21868704T>C , CM000686.1:g.21868704T>C GRCh37
NC_000024.8:g.20328092T>C NCBI36
NG_032920.1:g.43122A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4045A>G MANE Select ENSP00000322408.4:p.Asn1349Asp
ENST00000317961.8:c.4045A>G ENSP00000322408.4:p.Asn1349Asp
ENST00000382806.6:c.3874A>G ENSP00000372256.2:p.Asn1292Asp
ENST00000440077.5:c.3922A>G ENSP00000398543.1:p.Asn1308Asp
ENST00000469599.6:n.2643A>G
ENST00000492117.1:n.3937A>G
ENST00000541639.5:c.4138A>G ENSP00000444293.1:p.Asn1380Asp
NM_001146705.1:c.4138A>G NP_001140177.1:p.Asn1380Asp
NM_001146706.1:c.3874A>G NP_001140178.1:p.Asn1292Asp
NM_004653.4:c.4045A>G NP_004644.2:p.Asn1349Asp
XM_005262560.1:c.3910A>G XP_005262617.1:p.Asn1304Asp
XM_005262561.1:c.3814A>G XP_005262618.1:p.Asn1272Asp
XM_011531468.1:c.3967A>G XP_011529770.1:p.Asn1323Asp
XR_244571.2:n.4333A>G
XR_430568.2:n.4667A>G
XM_005262560.3:c.3910A>G XP_005262617.1:p.Asn1304Asp
XM_005262561.3:c.3814A>G XP_005262618.1:p.Asn1272Asp
XM_011531468.3:c.3967A>G XP_011529770.1:p.Asn1323Asp
XM_024452495.1:c.2035A>G XP_024308263.1:p.Asn679Asp
XM_024452496.1:c.1801A>G XP_024308264.1:p.Asn601Asp
XR_001756009.2:n.4783A>G
XR_001756010.2:n.4783A>G
XR_001756011.2:n.4648A>G
XR_001756012.2:n.4796A>G
XR_001756013.2:n.4114A>G
XR_002958832.1:n.4215A>G
XR_002958834.1:n.4439A>G
XR_002958835.1:n.4322A>G
XR_002958836.1:n.5005A>G
XR_002958837.1:n.4812A>G
XR_244571.4:n.4332A>G
XR_430568.4:n.4666A>G
NM_001146706.2:c.3874A>G NP_001140178.1:p.Asn1292Asp
NM_004653.5:c.4045A>G MANE Select NP_004644.2:p.Asn1349Asp
NM_001146705.2:c.4138A>G NP_001140177.1:p.Asn1380Asp