Canonical Allele Identifier: CA414843403
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707514T>C , CM000686.2:g.19707514T>C GRCh38
NC_000024.9:g.21869400T>C , CM000686.1:g.21869400T>C GRCh37
NC_000024.8:g.20328788T>C NCBI36
NG_032920.1:g.42426A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3632A>G MANE Select ENSP00000322408.4:p.Lys1211Arg
ENST00000317961.8:c.3632A>G ENSP00000322408.4:p.Lys1211Arg
ENST00000382806.6:c.3461A>G ENSP00000372256.2:p.Lys1154Arg
ENST00000415360.1:c.548A>G ENSP00000389433.1:p.Lys183Arg
ENST00000440077.5:c.3509A>G ENSP00000398543.1:p.Lys1170Arg
ENST00000469599.6:n.2230A>G
ENST00000492117.1:n.3524A>G
ENST00000541639.5:c.3725A>G ENSP00000444293.1:p.Lys1242Arg
NM_001146705.1:c.3725A>G NP_001140177.1:p.Lys1242Arg
NM_001146706.1:c.3461A>G NP_001140178.1:p.Lys1154Arg
NM_004653.4:c.3632A>G NP_004644.2:p.Lys1211Arg
XM_005262560.1:c.3497A>G XP_005262617.1:p.Lys1166Arg
XM_005262561.1:c.3401A>G XP_005262618.1:p.Lys1134Arg
XM_011531468.1:c.3554A>G XP_011529770.1:p.Lys1185Arg
XR_244571.2:n.3920A>G
XR_430568.2:n.4254A>G
XM_005262560.3:c.3497A>G XP_005262617.1:p.Lys1166Arg
XM_005262561.3:c.3401A>G XP_005262618.1:p.Lys1134Arg
XM_011531468.3:c.3554A>G XP_011529770.1:p.Lys1185Arg
XM_024452495.1:c.1622A>G XP_024308263.1:p.Lys541Arg
XM_024452496.1:c.1388A>G XP_024308264.1:p.Lys463Arg
XR_001756009.2:n.4370A>G
XR_001756010.2:n.4370A>G
XR_001756011.2:n.4235A>G
XR_001756012.2:n.4383A>G
XR_001756013.2:n.3701A>G
XR_002958832.1:n.3802A>G
XR_002958834.1:n.4026A>G
XR_002958835.1:n.3909A>G
XR_002958836.1:n.4592A>G
XR_002958837.1:n.4399A>G
XR_244571.4:n.3919A>G
XR_430568.4:n.4253A>G
NM_001146706.2:c.3461A>G NP_001140178.1:p.Lys1154Arg
NM_004653.5:c.3632A>G MANE Select NP_004644.2:p.Lys1211Arg
NM_001146705.2:c.3725A>G NP_001140177.1:p.Lys1242Arg