Canonical Allele Identifier: CA414843499
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

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