Canonical Allele Identifier: CA414843673
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707581A>T , CM000686.2:g.19707581A>T GRCh38
NC_000024.9:g.21869467A>T , CM000686.1:g.21869467A>T GRCh37
NC_000024.8:g.20328855A>T NCBI36
NG_032920.1:g.42359T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3565T>A MANE Select ENSP00000322408.4:p.Cys1189Ser
ENST00000317961.8:c.3565T>A ENSP00000322408.4:p.Cys1189Ser
ENST00000382806.6:c.3394T>A ENSP00000372256.2:p.Cys1132Ser
ENST00000415360.1:c.481T>A ENSP00000389433.1:p.Cys161Ser
ENST00000440077.5:c.3442T>A ENSP00000398543.1:p.Cys1148Ser
ENST00000469599.6:n.2163T>A
ENST00000492117.1:n.3457T>A
ENST00000541639.5:c.3658T>A ENSP00000444293.1:p.Cys1220Ser
NM_001146705.1:c.3658T>A NP_001140177.1:p.Cys1220Ser
NM_001146706.1:c.3394T>A NP_001140178.1:p.Cys1132Ser
NM_004653.4:c.3565T>A NP_004644.2:p.Cys1189Ser
XM_005262560.1:c.3430T>A XP_005262617.1:p.Cys1144Ser
XM_005262561.1:c.3334T>A XP_005262618.1:p.Cys1112Ser
XM_011531468.1:c.3487T>A XP_011529770.1:p.Cys1163Ser
XR_244571.2:n.3853T>A
XR_430568.2:n.4187T>A
XM_005262560.3:c.3430T>A XP_005262617.1:p.Cys1144Ser
XM_005262561.3:c.3334T>A XP_005262618.1:p.Cys1112Ser
XM_011531468.3:c.3487T>A XP_011529770.1:p.Cys1163Ser
XM_024452495.1:c.1555T>A XP_024308263.1:p.Cys519Ser
XM_024452496.1:c.1321T>A XP_024308264.1:p.Cys441Ser
XR_001756009.2:n.4303T>A
XR_001756010.2:n.4303T>A
XR_001756011.2:n.4168T>A
XR_001756012.2:n.4316T>A
XR_001756013.2:n.3634T>A
XR_002958832.1:n.3735T>A
XR_002958834.1:n.3959T>A
XR_002958835.1:n.3842T>A
XR_002958836.1:n.4525T>A
XR_002958837.1:n.4332T>A
XR_244571.4:n.3852T>A
XR_430568.4:n.4186T>A
NM_001146706.2:c.3394T>A NP_001140178.1:p.Cys1132Ser
NM_004653.5:c.3565T>A MANE Select NP_004644.2:p.Cys1189Ser
NM_001146705.2:c.3658T>A NP_001140177.1:p.Cys1220Ser