Canonical Allele Identifier: CA2579752080
Gene: KDM5D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707835A>C , CM000686.2:g.19707835A>C GRCh38
NC_000024.9:g.21869721A>C , CM000686.1:g.21869721A>C GRCh37
NC_000024.8:g.20329109A>C NCBI36
NG_032920.1:g.42105T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3400-89T>G MANE Select ENSP00000322408.4:n.3400-89T>G
ENST00000317961.8:c.3400-89T>G ENSP00000322408.4:n.3400-89T>G
ENST00000382806.6:c.3229-89T>G ENSP00000372256.2:n.3229-89T>G
ENST00000415360.1:c.316-89T>G ENSP00000389433.1:n.316-89T>G
ENST00000440077.5:c.3277-89T>G ENSP00000398543.1:n.3277-89T>G
ENST00000469599.6:n.1998-89T>G
ENST00000492117.1:n.3292-89T>G
ENST00000541639.5:c.3493-89T>G ENSP00000444293.1:n.3493-89T>G
NM_001146705.1:c.3493-89T>G NP_001140177.1:n.3493-89T>G
NM_001146706.1:c.3229-89T>G NP_001140178.1:n.3229-89T>G
NM_004653.4:c.3400-89T>G NP_004644.2:n.3400-89T>G
XM_005262560.1:c.3265-89T>G XP_005262617.1:n.3265-89T>G
XM_005262561.1:c.3169-89T>G XP_005262618.1:n.3169-89T>G
XM_011531468.1:c.3322-89T>G XP_011529770.1:n.3322-89T>G
XR_244571.2:n.3688-89T>G
XR_430568.2:n.4022-89T>G
XM_005262560.3:c.3265-89T>G XP_005262617.1:n.3265-89T>G
XM_005262561.3:c.3169-89T>G XP_005262618.1:n.3169-89T>G
XM_011531468.3:c.3322-89T>G XP_011529770.1:n.3322-89T>G
XM_024452495.1:c.1390-89T>G XP_024308263.1:n.1390-89T>G
XM_024452496.1:c.1156-89T>G XP_024308264.1:n.1156-89T>G
XR_001756009.2:n.4138-89T>G
XR_001756010.2:n.4138-89T>G
XR_001756011.2:n.4003-89T>G
XR_001756012.2:n.4151-89T>G
XR_001756013.2:n.3469-89T>G
XR_002958832.1:n.3570-89T>G
XR_002958834.1:n.3794-89T>G
XR_002958835.1:n.3677-89T>G
XR_002958836.1:n.4360-89T>G
XR_002958837.1:n.4167-89T>G
XR_244571.4:n.3687-89T>G
XR_430568.4:n.4021-89T>G
NM_001146706.2:c.3229-89T>G NP_001140178.1:n.3229-89T>G
NM_004653.5:c.3400-89T>G MANE Select NP_004644.2:n.3400-89T>G
NM_001146705.2:c.3493-89T>G NP_001140177.1:n.3493-89T>G