Canonical Allele Identifier: CA414843991
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707673T>A , CM000686.2:g.19707673T>A GRCh38
NC_000024.9:g.21869559T>A , CM000686.1:g.21869559T>A GRCh37
NC_000024.8:g.20328947T>A NCBI36
NG_032920.1:g.42267A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3473A>T MANE Select ENSP00000322408.4:p.Lys1158Met
ENST00000317961.8:c.3473A>T ENSP00000322408.4:p.Lys1158Met
ENST00000382806.6:c.3302A>T ENSP00000372256.2:p.Lys1101Met
ENST00000415360.1:c.389A>T ENSP00000389433.1:p.Lys130Met
ENST00000440077.5:c.3350A>T ENSP00000398543.1:p.Lys1117Met
ENST00000469599.6:n.2071A>T
ENST00000492117.1:n.3365A>T
ENST00000541639.5:c.3566A>T ENSP00000444293.1:p.Lys1189Met
NM_001146705.1:c.3566A>T NP_001140177.1:p.Lys1189Met
NM_001146706.1:c.3302A>T NP_001140178.1:p.Lys1101Met
NM_004653.4:c.3473A>T NP_004644.2:p.Lys1158Met
XM_005262560.1:c.3338A>T XP_005262617.1:p.Lys1113Met
XM_005262561.1:c.3242A>T XP_005262618.1:p.Lys1081Met
XM_011531468.1:c.3395A>T XP_011529770.1:p.Lys1132Met
XR_244571.2:n.3761A>T
XR_430568.2:n.4095A>T
XM_005262560.3:c.3338A>T XP_005262617.1:p.Lys1113Met
XM_005262561.3:c.3242A>T XP_005262618.1:p.Lys1081Met
XM_011531468.3:c.3395A>T XP_011529770.1:p.Lys1132Met
XM_024452495.1:c.1463A>T XP_024308263.1:p.Lys488Met
XM_024452496.1:c.1229A>T XP_024308264.1:p.Lys410Met
XR_001756009.2:n.4211A>T
XR_001756010.2:n.4211A>T
XR_001756011.2:n.4076A>T
XR_001756012.2:n.4224A>T
XR_001756013.2:n.3542A>T
XR_002958832.1:n.3643A>T
XR_002958834.1:n.3867A>T
XR_002958835.1:n.3750A>T
XR_002958836.1:n.4433A>T
XR_002958837.1:n.4240A>T
XR_244571.4:n.3760A>T
XR_430568.4:n.4094A>T
NM_001146706.2:c.3302A>T NP_001140178.1:p.Lys1101Met
NM_004653.5:c.3473A>T MANE Select NP_004644.2:p.Lys1158Met
NM_001146705.2:c.3566A>T NP_001140177.1:p.Lys1189Met