Canonical Allele Identifier: CA414844575
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19708025C>A , CM000686.2:g.19708025C>A GRCh38
NC_000024.9:g.21869911C>A , CM000686.1:g.21869911C>A GRCh37
NC_000024.8:g.20329299C>A NCBI36
NG_032920.1:g.41915G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3308G>T MANE Select ENSP00000322408.4:p.Ser1103Ile
ENST00000317961.8:c.3308G>T ENSP00000322408.4:p.Ser1103Ile
ENST00000382806.6:c.3137G>T ENSP00000372256.2:p.Ser1046Ile
ENST00000415360.1:c.224G>T ENSP00000389433.1:p.Ser75Ile
ENST00000440077.5:c.3185G>T ENSP00000398543.1:p.Ser1062Ile
ENST00000469599.6:n.1906G>T
ENST00000492117.1:n.3200G>T
ENST00000541639.5:c.3401G>T ENSP00000444293.1:p.Ser1134Ile
NM_001146705.1:c.3401G>T NP_001140177.1:p.Ser1134Ile
NM_001146706.1:c.3137G>T NP_001140178.1:p.Ser1046Ile
NM_004653.4:c.3308G>T NP_004644.2:p.Ser1103Ile
XM_005262560.1:c.3173G>T XP_005262617.1:p.Ser1058Ile
XM_005262561.1:c.3077G>T XP_005262618.1:p.Ser1026Ile
XM_011531468.1:c.3230G>T XP_011529770.1:p.Ser1077Ile
XR_244571.2:n.3596G>T
XR_430568.2:n.3930G>T
XM_005262560.3:c.3173G>T XP_005262617.1:p.Ser1058Ile
XM_005262561.3:c.3077G>T XP_005262618.1:p.Ser1026Ile
XM_011531468.3:c.3230G>T XP_011529770.1:p.Ser1077Ile
XM_024452495.1:c.1298G>T XP_024308263.1:p.Ser433Ile
XM_024452496.1:c.1064G>T XP_024308264.1:p.Ser355Ile
XR_001756009.2:n.4046G>T
XR_001756010.2:n.4046G>T
XR_001756011.2:n.3911G>T
XR_001756012.2:n.4059G>T
XR_001756013.2:n.3377G>T
XR_002958832.1:n.3478G>T
XR_002958834.1:n.3702G>T
XR_002958835.1:n.3585G>T
XR_002958836.1:n.4268G>T
XR_002958837.1:n.4075G>T
XR_244571.4:n.3595G>T
XR_430568.4:n.3929G>T
NM_001146706.2:c.3137G>T NP_001140178.1:p.Ser1046Ile
NM_004653.5:c.3308G>T MANE Select NP_004644.2:p.Ser1103Ile
NM_001146705.2:c.3401G>T NP_001140177.1:p.Ser1134Ile