Canonical Allele Identifier: CA414844686
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19708046C>G , CM000686.2:g.19708046C>G GRCh38
NC_000024.9:g.21869932C>G , CM000686.1:g.21869932C>G GRCh37
NC_000024.8:g.20329320C>G NCBI36
NG_032920.1:g.41894G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3287G>C MANE Select ENSP00000322408.4:p.Gly1096Ala
ENST00000317961.8:c.3287G>C ENSP00000322408.4:p.Gly1096Ala
ENST00000382806.6:c.3116G>C ENSP00000372256.2:p.Gly1039Ala
ENST00000415360.1:c.203G>C ENSP00000389433.1:p.Gly68Ala
ENST00000440077.5:c.3164G>C ENSP00000398543.1:p.Gly1055Ala
ENST00000469599.6:n.1885G>C
ENST00000492117.1:n.3179G>C
ENST00000541639.5:c.3380G>C ENSP00000444293.1:p.Gly1127Ala
NM_001146705.1:c.3380G>C NP_001140177.1:p.Gly1127Ala
NM_001146706.1:c.3116G>C NP_001140178.1:p.Gly1039Ala
NM_004653.4:c.3287G>C NP_004644.2:p.Gly1096Ala
XM_005262560.1:c.3152G>C XP_005262617.1:p.Gly1051Ala
XM_005262561.1:c.3056G>C XP_005262618.1:p.Gly1019Ala
XM_011531468.1:c.3209G>C XP_011529770.1:p.Gly1070Ala
XR_244571.2:n.3575G>C
XR_430568.2:n.3909G>C
XM_005262560.3:c.3152G>C XP_005262617.1:p.Gly1051Ala
XM_005262561.3:c.3056G>C XP_005262618.1:p.Gly1019Ala
XM_011531468.3:c.3209G>C XP_011529770.1:p.Gly1070Ala
XM_024452495.1:c.1277G>C XP_024308263.1:p.Gly426Ala
XM_024452496.1:c.1043G>C XP_024308264.1:p.Gly348Ala
XR_001756009.2:n.4025G>C
XR_001756010.2:n.4025G>C
XR_001756011.2:n.3890G>C
XR_001756012.2:n.4038G>C
XR_001756013.2:n.3356G>C
XR_002958832.1:n.3457G>C
XR_002958834.1:n.3681G>C
XR_002958835.1:n.3564G>C
XR_002958836.1:n.4247G>C
XR_002958837.1:n.4054G>C
XR_244571.4:n.3574G>C
XR_430568.4:n.3908G>C
NM_001146706.2:c.3116G>C NP_001140178.1:p.Gly1039Ala
NM_004653.5:c.3287G>C MANE Select NP_004644.2:p.Gly1096Ala
NM_001146705.2:c.3380G>C NP_001140177.1:p.Gly1127Ala