Canonical Allele Identifier: CA414844250
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707939A>C , CM000686.2:g.19707939A>C GRCh38
NC_000024.9:g.21869825A>C , CM000686.1:g.21869825A>C GRCh37
NC_000024.8:g.20329213A>C NCBI36
NG_032920.1:g.42001T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3394T>G MANE Select ENSP00000322408.4:p.Ser1132Ala
ENST00000317961.8:c.3394T>G ENSP00000322408.4:p.Ser1132Ala
ENST00000382806.6:c.3223T>G ENSP00000372256.2:p.Ser1075Ala
ENST00000415360.1:c.310T>G ENSP00000389433.1:p.Ser104Ala
ENST00000440077.5:c.3271T>G ENSP00000398543.1:p.Ser1091Ala
ENST00000469599.6:n.1992T>G
ENST00000492117.1:n.3286T>G
ENST00000541639.5:c.3487T>G ENSP00000444293.1:p.Ser1163Ala
NM_001146705.1:c.3487T>G NP_001140177.1:p.Ser1163Ala
NM_001146706.1:c.3223T>G NP_001140178.1:p.Ser1075Ala
NM_004653.4:c.3394T>G NP_004644.2:p.Ser1132Ala
XM_005262560.1:c.3259T>G XP_005262617.1:p.Ser1087Ala
XM_005262561.1:c.3163T>G XP_005262618.1:p.Ser1055Ala
XM_011531468.1:c.3316T>G XP_011529770.1:p.Ser1106Ala
XR_244571.2:n.3682T>G
XR_430568.2:n.4016T>G
XM_005262560.3:c.3259T>G XP_005262617.1:p.Ser1087Ala
XM_005262561.3:c.3163T>G XP_005262618.1:p.Ser1055Ala
XM_011531468.3:c.3316T>G XP_011529770.1:p.Ser1106Ala
XM_024452495.1:c.1384T>G XP_024308263.1:p.Ser462Ala
XM_024452496.1:c.1150T>G XP_024308264.1:p.Ser384Ala
XR_001756009.2:n.4132T>G
XR_001756010.2:n.4132T>G
XR_001756011.2:n.3997T>G
XR_001756012.2:n.4145T>G
XR_001756013.2:n.3463T>G
XR_002958832.1:n.3564T>G
XR_002958834.1:n.3788T>G
XR_002958835.1:n.3671T>G
XR_002958836.1:n.4354T>G
XR_002958837.1:n.4161T>G
XR_244571.4:n.3681T>G
XR_430568.4:n.4015T>G
NM_001146706.2:c.3223T>G NP_001140178.1:p.Ser1075Ala
NM_004653.5:c.3394T>G MANE Select NP_004644.2:p.Ser1132Ala
NM_001146705.2:c.3487T>G NP_001140177.1:p.Ser1163Ala