Canonical Allele Identifier: CA414844406
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707986T>G , CM000686.2:g.19707986T>G GRCh38
NC_000024.9:g.21869872T>G , CM000686.1:g.21869872T>G GRCh37
NC_000024.8:g.20329260T>G NCBI36
NG_032920.1:g.41954A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3347A>C MANE Select ENSP00000322408.4:p.Asp1116Ala
ENST00000317961.8:c.3347A>C ENSP00000322408.4:p.Asp1116Ala
ENST00000382806.6:c.3176A>C ENSP00000372256.2:p.Asp1059Ala
ENST00000415360.1:c.263A>C ENSP00000389433.1:p.Asp88Ala
ENST00000440077.5:c.3224A>C ENSP00000398543.1:p.Asp1075Ala
ENST00000469599.6:n.1945A>C
ENST00000492117.1:n.3239A>C
ENST00000541639.5:c.3440A>C ENSP00000444293.1:p.Asp1147Ala
NM_001146705.1:c.3440A>C NP_001140177.1:p.Asp1147Ala
NM_001146706.1:c.3176A>C NP_001140178.1:p.Asp1059Ala
NM_004653.4:c.3347A>C NP_004644.2:p.Asp1116Ala
XM_005262560.1:c.3212A>C XP_005262617.1:p.Asp1071Ala
XM_005262561.1:c.3116A>C XP_005262618.1:p.Asp1039Ala
XM_011531468.1:c.3269A>C XP_011529770.1:p.Asp1090Ala
XR_244571.2:n.3635A>C
XR_430568.2:n.3969A>C
XM_005262560.3:c.3212A>C XP_005262617.1:p.Asp1071Ala
XM_005262561.3:c.3116A>C XP_005262618.1:p.Asp1039Ala
XM_011531468.3:c.3269A>C XP_011529770.1:p.Asp1090Ala
XM_024452495.1:c.1337A>C XP_024308263.1:p.Asp446Ala
XM_024452496.1:c.1103A>C XP_024308264.1:p.Asp368Ala
XR_001756009.2:n.4085A>C
XR_001756010.2:n.4085A>C
XR_001756011.2:n.3950A>C
XR_001756012.2:n.4098A>C
XR_001756013.2:n.3416A>C
XR_002958832.1:n.3517A>C
XR_002958834.1:n.3741A>C
XR_002958835.1:n.3624A>C
XR_002958836.1:n.4307A>C
XR_002958837.1:n.4114A>C
XR_244571.4:n.3634A>C
XR_430568.4:n.3968A>C
NM_001146706.2:c.3176A>C NP_001140178.1:p.Asp1059Ala
NM_004653.5:c.3347A>C MANE Select NP_004644.2:p.Asp1116Ala
NM_001146705.2:c.3440A>C NP_001140177.1:p.Asp1147Ala