Canonical Allele Identifier: CA414843824
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707625A>C , CM000686.2:g.19707625A>C GRCh38
NC_000024.9:g.21869511A>C , CM000686.1:g.21869511A>C GRCh37
NC_000024.8:g.20328899A>C NCBI36
NG_032920.1:g.42315T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3521T>G MANE Select ENSP00000322408.4:p.Ile1174Ser
ENST00000317961.8:c.3521T>G ENSP00000322408.4:p.Ile1174Ser
ENST00000382806.6:c.3350T>G ENSP00000372256.2:p.Ile1117Ser
ENST00000415360.1:c.437T>G ENSP00000389433.1:p.Ile146Ser
ENST00000440077.5:c.3398T>G ENSP00000398543.1:p.Ile1133Ser
ENST00000469599.6:n.2119T>G
ENST00000492117.1:n.3413T>G
ENST00000541639.5:c.3614T>G ENSP00000444293.1:p.Ile1205Ser
NM_001146705.1:c.3614T>G NP_001140177.1:p.Ile1205Ser
NM_001146706.1:c.3350T>G NP_001140178.1:p.Ile1117Ser
NM_004653.4:c.3521T>G NP_004644.2:p.Ile1174Ser
XM_005262560.1:c.3386T>G XP_005262617.1:p.Ile1129Ser
XM_005262561.1:c.3290T>G XP_005262618.1:p.Ile1097Ser
XM_011531468.1:c.3443T>G XP_011529770.1:p.Ile1148Ser
XR_244571.2:n.3809T>G
XR_430568.2:n.4143T>G
XM_005262560.3:c.3386T>G XP_005262617.1:p.Ile1129Ser
XM_005262561.3:c.3290T>G XP_005262618.1:p.Ile1097Ser
XM_011531468.3:c.3443T>G XP_011529770.1:p.Ile1148Ser
XM_024452495.1:c.1511T>G XP_024308263.1:p.Ile504Ser
XM_024452496.1:c.1277T>G XP_024308264.1:p.Ile426Ser
XR_001756009.2:n.4259T>G
XR_001756010.2:n.4259T>G
XR_001756011.2:n.4124T>G
XR_001756012.2:n.4272T>G
XR_001756013.2:n.3590T>G
XR_002958832.1:n.3691T>G
XR_002958834.1:n.3915T>G
XR_002958835.1:n.3798T>G
XR_002958836.1:n.4481T>G
XR_002958837.1:n.4288T>G
XR_244571.4:n.3808T>G
XR_430568.4:n.4142T>G
NM_001146706.2:c.3350T>G NP_001140178.1:p.Ile1117Ser
NM_004653.5:c.3521T>G MANE Select NP_004644.2:p.Ile1174Ser
NM_001146705.2:c.3614T>G NP_001140177.1:p.Ile1205Ser