Canonical Allele Identifier: CA414839987
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706066C>T , CM000686.2:g.19706066C>T GRCh38
NC_000024.9:g.21867952C>T , CM000686.1:g.21867952C>T GRCh37
NC_000024.8:g.20327340C>T NCBI36
NG_032920.1:g.43874G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4549G>A MANE Select ENSP00000322408.4:p.Gly1517Ser
ENST00000317961.8:c.4549G>A ENSP00000322408.4:p.Gly1517Ser
ENST00000382806.6:c.4378G>A ENSP00000372256.2:p.Gly1460Ser
ENST00000440077.5:c.4426G>A ENSP00000398543.1:p.Gly1476Ser
ENST00000469599.6:n.3300G>A
ENST00000492117.1:n.4594G>A
ENST00000541639.5:c.4642G>A ENSP00000444293.1:p.Gly1548Ser
NM_001146705.1:c.4642G>A NP_001140177.1:p.Gly1548Ser
NM_001146706.1:c.4378G>A NP_001140178.1:p.Gly1460Ser
NM_004653.4:c.4549G>A NP_004644.2:p.Gly1517Ser
XM_005262560.1:c.4414G>A XP_005262617.1:p.Gly1472Ser
XM_005262561.1:c.4318G>A XP_005262618.1:p.Gly1440Ser
XM_011531468.1:c.4471G>A XP_011529770.1:p.Gly1491Ser
XR_430568.2:n.5324G>A
XM_005262560.3:c.4414G>A XP_005262617.1:p.Gly1472Ser
XM_005262561.3:c.4318G>A XP_005262618.1:p.Gly1440Ser
XM_011531468.3:c.4471G>A XP_011529770.1:p.Gly1491Ser
XM_024452495.1:c.2539G>A XP_024308263.1:p.Gly847Ser
XM_024452496.1:c.2305G>A XP_024308264.1:p.Gly769Ser
XR_001756009.2:n.5287G>A
XR_001756010.2:n.5255G>A
XR_001756011.2:n.5152G>A
XR_001756012.2:n.5300G>A
XR_001756013.2:n.4618G>A
XR_002958832.1:n.4872G>A
XR_002958834.1:n.4943G>A
XR_002958835.1:n.4826G>A
XR_002958836.1:n.5477G>A
XR_002958837.1:n.5284G>A
XR_244571.4:n.4804G>A
XR_430568.4:n.5323G>A
NM_001146706.2:c.4378G>A NP_001140178.1:p.Gly1460Ser
NM_004653.5:c.4549G>A MANE Select NP_004644.2:p.Gly1517Ser
NM_001146705.2:c.4642G>A NP_001140177.1:p.Gly1548Ser