Canonical Allele Identifier: CA414843497
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707541G>C , CM000686.2:g.19707541G>C GRCh38
NC_000024.9:g.21869427G>C , CM000686.1:g.21869427G>C GRCh37
NC_000024.8:g.20328815G>C NCBI36
NG_032920.1:g.42399C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3605C>G MANE Select ENSP00000322408.4:p.Ser1202Ter
ENST00000317961.8:c.3605C>G ENSP00000322408.4:p.Ser1202Ter
ENST00000382806.6:c.3434C>G ENSP00000372256.2:p.Ser1145Ter
ENST00000415360.1:c.521C>G ENSP00000389433.1:p.Ser174Ter
ENST00000440077.5:c.3482C>G ENSP00000398543.1:p.Ser1161Ter
ENST00000469599.6:n.2203C>G
ENST00000492117.1:n.3497C>G
ENST00000541639.5:c.3698C>G ENSP00000444293.1:p.Ser1233Ter
NM_001146705.1:c.3698C>G NP_001140177.1:p.Ser1233Ter
NM_001146706.1:c.3434C>G NP_001140178.1:p.Ser1145Ter
NM_004653.4:c.3605C>G NP_004644.2:p.Ser1202Ter
XM_005262560.1:c.3470C>G XP_005262617.1:p.Ser1157Ter
XM_005262561.1:c.3374C>G XP_005262618.1:p.Ser1125Ter
XM_011531468.1:c.3527C>G XP_011529770.1:p.Ser1176Ter
XR_244571.2:n.3893C>G
XR_430568.2:n.4227C>G
XM_005262560.3:c.3470C>G XP_005262617.1:p.Ser1157Ter
XM_005262561.3:c.3374C>G XP_005262618.1:p.Ser1125Ter
XM_011531468.3:c.3527C>G XP_011529770.1:p.Ser1176Ter
XM_024452495.1:c.1595C>G XP_024308263.1:p.Ser532Ter
XM_024452496.1:c.1361C>G XP_024308264.1:p.Ser454Ter
XR_001756009.2:n.4343C>G
XR_001756010.2:n.4343C>G
XR_001756011.2:n.4208C>G
XR_001756012.2:n.4356C>G
XR_001756013.2:n.3674C>G
XR_002958832.1:n.3775C>G
XR_002958834.1:n.3999C>G
XR_002958835.1:n.3882C>G
XR_002958836.1:n.4565C>G
XR_002958837.1:n.4372C>G
XR_244571.4:n.3892C>G
XR_430568.4:n.4226C>G
NM_001146706.2:c.3434C>G NP_001140178.1:p.Ser1145Ter
NM_004653.5:c.3605C>G MANE Select NP_004644.2:p.Ser1202Ter
NM_001146705.2:c.3698C>G NP_001140177.1:p.Ser1233Ter