Canonical Allele Identifier: CA414844496
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19708010T>A , CM000686.2:g.19708010T>A GRCh38
NC_000024.9:g.21869896T>A , CM000686.1:g.21869896T>A GRCh37
NC_000024.8:g.20329284T>A NCBI36
NG_032920.1:g.41930A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3323A>T MANE Select ENSP00000322408.4:p.Lys1108Met
ENST00000317961.8:c.3323A>T ENSP00000322408.4:p.Lys1108Met
ENST00000382806.6:c.3152A>T ENSP00000372256.2:p.Lys1051Met
ENST00000415360.1:c.239A>T ENSP00000389433.1:p.Lys80Met
ENST00000440077.5:c.3200A>T ENSP00000398543.1:p.Lys1067Met
ENST00000469599.6:n.1921A>T
ENST00000492117.1:n.3215A>T
ENST00000541639.5:c.3416A>T ENSP00000444293.1:p.Lys1139Met
NM_001146705.1:c.3416A>T NP_001140177.1:p.Lys1139Met
NM_001146706.1:c.3152A>T NP_001140178.1:p.Lys1051Met
NM_004653.4:c.3323A>T NP_004644.2:p.Lys1108Met
XM_005262560.1:c.3188A>T XP_005262617.1:p.Lys1063Met
XM_005262561.1:c.3092A>T XP_005262618.1:p.Lys1031Met
XM_011531468.1:c.3245A>T XP_011529770.1:p.Lys1082Met
XR_244571.2:n.3611A>T
XR_430568.2:n.3945A>T
XM_005262560.3:c.3188A>T XP_005262617.1:p.Lys1063Met
XM_005262561.3:c.3092A>T XP_005262618.1:p.Lys1031Met
XM_011531468.3:c.3245A>T XP_011529770.1:p.Lys1082Met
XM_024452495.1:c.1313A>T XP_024308263.1:p.Lys438Met
XM_024452496.1:c.1079A>T XP_024308264.1:p.Lys360Met
XR_001756009.2:n.4061A>T
XR_001756010.2:n.4061A>T
XR_001756011.2:n.3926A>T
XR_001756012.2:n.4074A>T
XR_001756013.2:n.3392A>T
XR_002958832.1:n.3493A>T
XR_002958834.1:n.3717A>T
XR_002958835.1:n.3600A>T
XR_002958836.1:n.4283A>T
XR_002958837.1:n.4090A>T
XR_244571.4:n.3610A>T
XR_430568.4:n.3944A>T
NM_001146706.2:c.3152A>T NP_001140178.1:p.Lys1051Met
NM_004653.5:c.3323A>T MANE Select NP_004644.2:p.Lys1108Met
NM_001146705.2:c.3416A>T NP_001140177.1:p.Lys1139Met