Canonical Allele Identifier: CA414840271
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706137A>T , CM000686.2:g.19706137A>T GRCh38
NC_000024.9:g.21868023A>T , CM000686.1:g.21868023A>T GRCh37
NC_000024.8:g.20327411A>T NCBI36
NG_032920.1:g.43803T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4478T>A MANE Select ENSP00000322408.4:p.Phe1493Tyr
ENST00000317961.8:c.4478T>A ENSP00000322408.4:p.Phe1493Tyr
ENST00000382806.6:c.4307T>A ENSP00000372256.2:p.Phe1436Tyr
ENST00000440077.5:c.4355T>A ENSP00000398543.1:p.Phe1452Tyr
ENST00000469599.6:n.3229T>A
ENST00000492117.1:n.4523T>A
ENST00000541639.5:c.4571T>A ENSP00000444293.1:p.Phe1524Tyr
NM_001146705.1:c.4571T>A NP_001140177.1:p.Phe1524Tyr
NM_001146706.1:c.4307T>A NP_001140178.1:p.Phe1436Tyr
NM_004653.4:c.4478T>A NP_004644.2:p.Phe1493Tyr
XM_005262560.1:c.4343T>A XP_005262617.1:p.Phe1448Tyr
XM_005262561.1:c.4247T>A XP_005262618.1:p.Phe1416Tyr
XM_011531468.1:c.4400T>A XP_011529770.1:p.Phe1467Tyr
XR_430568.2:n.5253T>A
XM_005262560.3:c.4343T>A XP_005262617.1:p.Phe1448Tyr
XM_005262561.3:c.4247T>A XP_005262618.1:p.Phe1416Tyr
XM_011531468.3:c.4400T>A XP_011529770.1:p.Phe1467Tyr
XM_024452495.1:c.2468T>A XP_024308263.1:p.Phe823Tyr
XM_024452496.1:c.2234T>A XP_024308264.1:p.Phe745Tyr
XR_001756009.2:n.5216T>A
XR_001756010.2:n.5184T>A
XR_001756011.2:n.5081T>A
XR_001756012.2:n.5229T>A
XR_001756013.2:n.4547T>A
XR_002958832.1:n.4801T>A
XR_002958834.1:n.4872T>A
XR_002958835.1:n.4755T>A
XR_002958836.1:n.5406T>A
XR_002958837.1:n.5213T>A
XR_244571.4:n.4733T>A
XR_430568.4:n.5252T>A
NM_001146706.2:c.4307T>A NP_001140178.1:p.Phe1436Tyr
NM_004653.5:c.4478T>A MANE Select NP_004644.2:p.Phe1493Tyr
NM_001146705.2:c.4571T>A NP_001140177.1:p.Phe1524Tyr