Canonical Allele Identifier: CA414843787
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707614C>G , CM000686.2:g.19707614C>G GRCh38
NC_000024.9:g.21869500C>G , CM000686.1:g.21869500C>G GRCh37
NC_000024.8:g.20328888C>G NCBI36
NG_032920.1:g.42326G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3532G>C MANE Select ENSP00000322408.4:p.Gly1178Arg
ENST00000317961.8:c.3532G>C ENSP00000322408.4:p.Gly1178Arg
ENST00000382806.6:c.3361G>C ENSP00000372256.2:p.Gly1121Arg
ENST00000415360.1:c.448G>C ENSP00000389433.1:p.Gly150Arg
ENST00000440077.5:c.3409G>C ENSP00000398543.1:p.Gly1137Arg
ENST00000469599.6:n.2130G>C
ENST00000492117.1:n.3424G>C
ENST00000541639.5:c.3625G>C ENSP00000444293.1:p.Gly1209Arg
NM_001146705.1:c.3625G>C NP_001140177.1:p.Gly1209Arg
NM_001146706.1:c.3361G>C NP_001140178.1:p.Gly1121Arg
NM_004653.4:c.3532G>C NP_004644.2:p.Gly1178Arg
XM_005262560.1:c.3397G>C XP_005262617.1:p.Gly1133Arg
XM_005262561.1:c.3301G>C XP_005262618.1:p.Gly1101Arg
XM_011531468.1:c.3454G>C XP_011529770.1:p.Gly1152Arg
XR_244571.2:n.3820G>C
XR_430568.2:n.4154G>C
XM_005262560.3:c.3397G>C XP_005262617.1:p.Gly1133Arg
XM_005262561.3:c.3301G>C XP_005262618.1:p.Gly1101Arg
XM_011531468.3:c.3454G>C XP_011529770.1:p.Gly1152Arg
XM_024452495.1:c.1522G>C XP_024308263.1:p.Gly508Arg
XM_024452496.1:c.1288G>C XP_024308264.1:p.Gly430Arg
XR_001756009.2:n.4270G>C
XR_001756010.2:n.4270G>C
XR_001756011.2:n.4135G>C
XR_001756012.2:n.4283G>C
XR_001756013.2:n.3601G>C
XR_002958832.1:n.3702G>C
XR_002958834.1:n.3926G>C
XR_002958835.1:n.3809G>C
XR_002958836.1:n.4492G>C
XR_002958837.1:n.4299G>C
XR_244571.4:n.3819G>C
XR_430568.4:n.4153G>C
NM_001146706.2:c.3361G>C NP_001140178.1:p.Gly1121Arg
NM_004653.5:c.3532G>C MANE Select NP_004644.2:p.Gly1178Arg
NM_001146705.2:c.3625G>C NP_001140177.1:p.Gly1209Arg