Canonical Allele Identifier: CA414843132
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707436G>T , CM000686.2:g.19707436G>T GRCh38
NC_000024.9:g.21869322G>T , CM000686.1:g.21869322G>T GRCh37
NC_000024.8:g.20328710G>T NCBI36
NG_032920.1:g.42504C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3710C>A MANE Select ENSP00000322408.4:p.Ser1237Ter
ENST00000317961.8:c.3710C>A ENSP00000322408.4:p.Ser1237Ter
ENST00000382806.6:c.3539C>A ENSP00000372256.2:p.Ser1180Ter
ENST00000415360.1:c.626C>A ENSP00000389433.1:p.Ser209Ter
ENST00000440077.5:c.3587C>A ENSP00000398543.1:p.Ser1196Ter
ENST00000469599.6:n.2308C>A
ENST00000492117.1:n.3602C>A
ENST00000541639.5:c.3803C>A ENSP00000444293.1:p.Ser1268Ter
NM_001146705.1:c.3803C>A NP_001140177.1:p.Ser1268Ter
NM_001146706.1:c.3539C>A NP_001140178.1:p.Ser1180Ter
NM_004653.4:c.3710C>A NP_004644.2:p.Ser1237Ter
XM_005262560.1:c.3575C>A XP_005262617.1:p.Ser1192Ter
XM_005262561.1:c.3479C>A XP_005262618.1:p.Ser1160Ter
XM_011531468.1:c.3632C>A XP_011529770.1:p.Ser1211Ter
XR_244571.2:n.3998C>A
XR_430568.2:n.4332C>A
XM_005262560.3:c.3575C>A XP_005262617.1:p.Ser1192Ter
XM_005262561.3:c.3479C>A XP_005262618.1:p.Ser1160Ter
XM_011531468.3:c.3632C>A XP_011529770.1:p.Ser1211Ter
XM_024452495.1:c.1700C>A XP_024308263.1:p.Ser567Ter
XM_024452496.1:c.1466C>A XP_024308264.1:p.Ser489Ter
XR_001756009.2:n.4448C>A
XR_001756010.2:n.4448C>A
XR_001756011.2:n.4313C>A
XR_001756012.2:n.4461C>A
XR_001756013.2:n.3779C>A
XR_002958832.1:n.3880C>A
XR_002958834.1:n.4104C>A
XR_002958835.1:n.3987C>A
XR_002958836.1:n.4670C>A
XR_002958837.1:n.4477C>A
XR_244571.4:n.3997C>A
XR_430568.4:n.4331C>A
NM_001146706.2:c.3539C>A NP_001140178.1:p.Ser1180Ter
NM_004653.5:c.3710C>A MANE Select NP_004644.2:p.Ser1237Ter
NM_001146705.2:c.3803C>A NP_001140177.1:p.Ser1268Ter