Canonical Allele Identifier: CA414839885
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706038A>G , CM000686.2:g.19706038A>G GRCh38
NC_000024.9:g.21867924A>G , CM000686.1:g.21867924A>G GRCh37
NC_000024.8:g.20327312A>G NCBI36
NG_032920.1:g.43902T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4577T>C MANE Select ENSP00000322408.4:p.Met1526Thr
ENST00000317961.8:c.4577T>C ENSP00000322408.4:p.Met1526Thr
ENST00000382806.6:c.4406T>C ENSP00000372256.2:p.Met1469Thr
ENST00000469599.6:n.3328T>C
ENST00000492117.1:n.4622T>C
ENST00000541639.5:c.4670T>C ENSP00000444293.1:p.Met1557Thr
NM_001146705.1:c.4670T>C NP_001140177.1:p.Met1557Thr
NM_001146706.1:c.4406T>C NP_001140178.1:p.Met1469Thr
NM_004653.4:c.4577T>C NP_004644.2:p.Met1526Thr
XM_005262560.1:c.4442T>C XP_005262617.1:p.Met1481Thr
XM_005262561.1:c.4346T>C XP_005262618.1:p.Met1449Thr
XM_011531468.1:c.4499T>C XP_011529770.1:p.Met1500Thr
XR_430568.2:n.5352T>C
XM_005262560.3:c.4442T>C XP_005262617.1:p.Met1481Thr
XM_005262561.3:c.4346T>C XP_005262618.1:p.Met1449Thr
XM_011531468.3:c.4499T>C XP_011529770.1:p.Met1500Thr
XM_024452495.1:c.2567T>C XP_024308263.1:p.Met856Thr
XM_024452496.1:c.2333T>C XP_024308264.1:p.Met778Thr
XR_001756009.2:n.5315T>C
XR_001756010.2:n.5283T>C
XR_001756011.2:n.5180T>C
XR_001756012.2:n.5328T>C
XR_001756013.2:n.4646T>C
XR_002958832.1:n.4900T>C
XR_002958834.1:n.4971T>C
XR_002958835.1:n.4854T>C
XR_002958836.1:n.5505T>C
XR_002958837.1:n.5312T>C
XR_244571.4:n.4832T>C
XR_430568.4:n.5351T>C
NM_001146706.2:c.4406T>C NP_001140178.1:p.Met1469Thr
NM_004653.5:c.4577T>C MANE Select NP_004644.2:p.Met1526Thr
NM_001146705.2:c.4670T>C NP_001140177.1:p.Met1557Thr