Canonical Allele Identifier: CA414843168
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707446A>T , CM000686.2:g.19707446A>T GRCh38
NC_000024.9:g.21869332A>T , CM000686.1:g.21869332A>T GRCh37
NC_000024.8:g.20328720A>T NCBI36
NG_032920.1:g.42494T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3700T>A MANE Select ENSP00000322408.4:p.Cys1234Ser
ENST00000317961.8:c.3700T>A ENSP00000322408.4:p.Cys1234Ser
ENST00000382806.6:c.3529T>A ENSP00000372256.2:p.Cys1177Ser
ENST00000415360.1:c.616T>A ENSP00000389433.1:p.Cys206Ser
ENST00000440077.5:c.3577T>A ENSP00000398543.1:p.Cys1193Ser
ENST00000469599.6:n.2298T>A
ENST00000492117.1:n.3592T>A
ENST00000541639.5:c.3793T>A ENSP00000444293.1:p.Cys1265Ser
NM_001146705.1:c.3793T>A NP_001140177.1:p.Cys1265Ser
NM_001146706.1:c.3529T>A NP_001140178.1:p.Cys1177Ser
NM_004653.4:c.3700T>A NP_004644.2:p.Cys1234Ser
XM_005262560.1:c.3565T>A XP_005262617.1:p.Cys1189Ser
XM_005262561.1:c.3469T>A XP_005262618.1:p.Cys1157Ser
XM_011531468.1:c.3622T>A XP_011529770.1:p.Cys1208Ser
XR_244571.2:n.3988T>A
XR_430568.2:n.4322T>A
XM_005262560.3:c.3565T>A XP_005262617.1:p.Cys1189Ser
XM_005262561.3:c.3469T>A XP_005262618.1:p.Cys1157Ser
XM_011531468.3:c.3622T>A XP_011529770.1:p.Cys1208Ser
XM_024452495.1:c.1690T>A XP_024308263.1:p.Cys564Ser
XM_024452496.1:c.1456T>A XP_024308264.1:p.Cys486Ser
XR_001756009.2:n.4438T>A
XR_001756010.2:n.4438T>A
XR_001756011.2:n.4303T>A
XR_001756012.2:n.4451T>A
XR_001756013.2:n.3769T>A
XR_002958832.1:n.3870T>A
XR_002958834.1:n.4094T>A
XR_002958835.1:n.3977T>A
XR_002958836.1:n.4660T>A
XR_002958837.1:n.4467T>A
XR_244571.4:n.3987T>A
XR_430568.4:n.4321T>A
NM_001146706.2:c.3529T>A NP_001140178.1:p.Cys1177Ser
NM_004653.5:c.3700T>A MANE Select NP_004644.2:p.Cys1234Ser
NM_001146705.2:c.3793T>A NP_001140177.1:p.Cys1265Ser