Canonical Allele Identifier: CA414843382
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707509T>C , CM000686.2:g.19707509T>C GRCh38
NC_000024.9:g.21869395T>C , CM000686.1:g.21869395T>C GRCh37
NC_000024.8:g.20328783T>C NCBI36
NG_032920.1:g.42431A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3637A>G MANE Select ENSP00000322408.4:p.Ser1213Gly
ENST00000317961.8:c.3637A>G ENSP00000322408.4:p.Ser1213Gly
ENST00000382806.6:c.3466A>G ENSP00000372256.2:p.Ser1156Gly
ENST00000415360.1:c.553A>G ENSP00000389433.1:p.Ser185Gly
ENST00000440077.5:c.3514A>G ENSP00000398543.1:p.Ser1172Gly
ENST00000469599.6:n.2235A>G
ENST00000492117.1:n.3529A>G
ENST00000541639.5:c.3730A>G ENSP00000444293.1:p.Ser1244Gly
NM_001146705.1:c.3730A>G NP_001140177.1:p.Ser1244Gly
NM_001146706.1:c.3466A>G NP_001140178.1:p.Ser1156Gly
NM_004653.4:c.3637A>G NP_004644.2:p.Ser1213Gly
XM_005262560.1:c.3502A>G XP_005262617.1:p.Ser1168Gly
XM_005262561.1:c.3406A>G XP_005262618.1:p.Ser1136Gly
XM_011531468.1:c.3559A>G XP_011529770.1:p.Ser1187Gly
XR_244571.2:n.3925A>G
XR_430568.2:n.4259A>G
XM_005262560.3:c.3502A>G XP_005262617.1:p.Ser1168Gly
XM_005262561.3:c.3406A>G XP_005262618.1:p.Ser1136Gly
XM_011531468.3:c.3559A>G XP_011529770.1:p.Ser1187Gly
XM_024452495.1:c.1627A>G XP_024308263.1:p.Ser543Gly
XM_024452496.1:c.1393A>G XP_024308264.1:p.Ser465Gly
XR_001756009.2:n.4375A>G
XR_001756010.2:n.4375A>G
XR_001756011.2:n.4240A>G
XR_001756012.2:n.4388A>G
XR_001756013.2:n.3706A>G
XR_002958832.1:n.3807A>G
XR_002958834.1:n.4031A>G
XR_002958835.1:n.3914A>G
XR_002958836.1:n.4597A>G
XR_002958837.1:n.4404A>G
XR_244571.4:n.3924A>G
XR_430568.4:n.4258A>G
NM_001146706.2:c.3466A>G NP_001140178.1:p.Ser1156Gly
NM_004653.5:c.3637A>G MANE Select NP_004644.2:p.Ser1213Gly
NM_001146705.2:c.3730A>G NP_001140177.1:p.Ser1244Gly