Canonical Allele Identifier: CA414844358
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707972C>G , CM000686.2:g.19707972C>G GRCh38
NC_000024.9:g.21869858C>G , CM000686.1:g.21869858C>G GRCh37
NC_000024.8:g.20329246C>G NCBI36
NG_032920.1:g.41968G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000317961.9:c.3361G>C MANE Select ENSP00000322408.4:p.Gly1121Arg
ENST00000317961.8:c.3361G>C ENSP00000322408.4:p.Gly1121Arg
ENST00000382806.6:c.3190G>C ENSP00000372256.2:p.Gly1064Arg
ENST00000415360.1:c.277G>C ENSP00000389433.1:p.Gly93Arg
ENST00000440077.5:c.3238G>C ENSP00000398543.1:p.Gly1080Arg
ENST00000469599.6:n.1959G>C
ENST00000492117.1:n.3253G>C
ENST00000541639.5:c.3454G>C ENSP00000444293.1:p.Gly1152Arg
NM_001146705.1:c.3454G>C NP_001140177.1:p.Gly1152Arg
NM_001146706.1:c.3190G>C NP_001140178.1:p.Gly1064Arg
NM_004653.4:c.3361G>C NP_004644.2:p.Gly1121Arg
XM_005262560.1:c.3226G>C XP_005262617.1:p.Gly1076Arg
XM_005262561.1:c.3130G>C XP_005262618.1:p.Gly1044Arg
XM_011531468.1:c.3283G>C XP_011529770.1:p.Gly1095Arg
XR_244571.2:n.3649G>C
XR_430568.2:n.3983G>C
XM_005262560.3:c.3226G>C XP_005262617.1:p.Gly1076Arg
XM_005262561.3:c.3130G>C XP_005262618.1:p.Gly1044Arg
XM_011531468.3:c.3283G>C XP_011529770.1:p.Gly1095Arg
XM_024452495.1:c.1351G>C XP_024308263.1:p.Gly451Arg
XM_024452496.1:c.1117G>C XP_024308264.1:p.Gly373Arg
XR_001756009.2:n.4099G>C
XR_001756010.2:n.4099G>C
XR_001756011.2:n.3964G>C
XR_001756012.2:n.4112G>C
XR_001756013.2:n.3430G>C
XR_002958832.1:n.3531G>C
XR_002958834.1:n.3755G>C
XR_002958835.1:n.3638G>C
XR_002958836.1:n.4321G>C
XR_002958837.1:n.4128G>C
XR_244571.4:n.3648G>C
XR_430568.4:n.3982G>C
NM_001146706.2:c.3190G>C NP_001140178.1:p.Gly1064Arg
NM_004653.5:c.3361G>C MANE Select NP_004644.2:p.Gly1121Arg
NM_001146705.2:c.3454G>C NP_001140177.1:p.Gly1152Arg