Canonical Allele Identifier: CA337440441
Gene: KDM5D HGNC NCBI

Linked Data

dbSNP Id: rs2032627

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19719687A>C , CM000686.2:g.19719687A>C GRCh38
NC_000024.9:g.21881573A>C , CM000686.1:g.21881573A>C GRCh37
NC_000024.8:g.20340961A>C NCBI36
NG_032920.1:g.30253T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000317961.9:c.1716+1185T>G MANE Select ENSP00000322408.4:n.1716+1185T>G
ENST00000317961.8:c.1716+1185T>G ENSP00000322408.4:n.1716+1185T>G
ENST00000382806.6:c.1545+1185T>G ENSP00000372256.2:n.1545+1185T>G
ENST00000440077.5:c.1593+1185T>G ENSP00000398543.1:n.1593+1185T>G
ENST00000492117.1:n.1501+1185T>G
ENST00000541639.5:c.1809+1185T>G ENSP00000444293.1:n.1809+1185T>G
NM_001146705.1:c.1809+1185T>G NP_001140177.1:n.1809+1185T>G
NM_001146706.1:c.1545+1185T>G NP_001140178.1:n.1545+1185T>G
NM_004653.4:c.1716+1185T>G NP_004644.2:n.1716+1185T>G
XM_005262560.1:c.1581+1185T>G XP_005262617.1:n.1581+1185T>G
XM_005262561.1:c.1716+1185T>G XP_005262618.1:n.1716+1185T>G
XM_005262562.2:c.1716+1185T>G XP_005262619.1:n.1716+1185T>G
XM_011531468.1:c.1716+1185T>G XP_011529770.1:n.1716+1185T>G
XR_244571.2:n.2004+1185T>G
XR_430568.2:n.2004+1185T>G
XR_938609.1:n.2004+1185T>G
XR_938610.1:n.2004+1185T>G
XM_005262560.3:c.1581+1185T>G XP_005262617.1:n.1581+1185T>G
XM_005262561.3:c.1716+1185T>G XP_005262618.1:n.1716+1185T>G
XM_011531468.3:c.1716+1185T>G XP_011529770.1:n.1716+1185T>G
XM_024452495.1:c.-402+1185T>G XP_024308263.1:n.-402+1185T>G
XR_001756009.2:n.2003+1185T>G
XR_001756010.2:n.2003+1185T>G
XR_001756011.2:n.1868+1185T>G
XR_001756012.2:n.2003+1185T>G
XR_001756013.2:n.2003+1185T>G
XR_002958832.1:n.2003+1185T>G
XR_002958833.1:n.2003+1185T>G
XR_002958834.1:n.2003+1185T>G
XR_002958835.1:n.2003+1185T>G
XR_002958836.1:n.2003+1185T>G
XR_002958837.1:n.2003+1185T>G
XR_244571.4:n.2003+1185T>G
XR_430568.4:n.2003+1185T>G
NM_001146706.2:c.1545+1185T>G NP_001140178.1:n.1545+1185T>G
NM_004653.5:c.1716+1185T>G MANE Select NP_004644.2:n.1716+1185T>G
NM_001146705.2:c.1809+1185T>G NP_001140177.1:n.1809+1185T>G