Canonical Allele Identifier: CA414840161
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706107A>G , CM000686.2:g.19706107A>G GRCh38
NC_000024.9:g.21867993A>G , CM000686.1:g.21867993A>G GRCh37
NC_000024.8:g.20327381A>G NCBI36
NG_032920.1:g.43833T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4508T>C MANE Select ENSP00000322408.4:p.Phe1503Ser
ENST00000317961.8:c.4508T>C ENSP00000322408.4:p.Phe1503Ser
ENST00000382806.6:c.4337T>C ENSP00000372256.2:p.Phe1446Ser
ENST00000440077.5:c.4385T>C ENSP00000398543.1:p.Phe1462Ser
ENST00000469599.6:n.3259T>C
ENST00000492117.1:n.4553T>C
ENST00000541639.5:c.4601T>C ENSP00000444293.1:p.Phe1534Ser
NM_001146705.1:c.4601T>C NP_001140177.1:p.Phe1534Ser
NM_001146706.1:c.4337T>C NP_001140178.1:p.Phe1446Ser
NM_004653.4:c.4508T>C NP_004644.2:p.Phe1503Ser
XM_005262560.1:c.4373T>C XP_005262617.1:p.Phe1458Ser
XM_005262561.1:c.4277T>C XP_005262618.1:p.Phe1426Ser
XM_011531468.1:c.4430T>C XP_011529770.1:p.Phe1477Ser
XR_430568.2:n.5283T>C
XM_005262560.3:c.4373T>C XP_005262617.1:p.Phe1458Ser
XM_005262561.3:c.4277T>C XP_005262618.1:p.Phe1426Ser
XM_011531468.3:c.4430T>C XP_011529770.1:p.Phe1477Ser
XM_024452495.1:c.2498T>C XP_024308263.1:p.Phe833Ser
XM_024452496.1:c.2264T>C XP_024308264.1:p.Phe755Ser
XR_001756009.2:n.5246T>C
XR_001756010.2:n.5214T>C
XR_001756011.2:n.5111T>C
XR_001756012.2:n.5259T>C
XR_001756013.2:n.4577T>C
XR_002958832.1:n.4831T>C
XR_002958834.1:n.4902T>C
XR_002958835.1:n.4785T>C
XR_002958836.1:n.5436T>C
XR_002958837.1:n.5243T>C
XR_244571.4:n.4763T>C
XR_430568.4:n.5282T>C
NM_001146706.2:c.4337T>C NP_001140178.1:p.Phe1446Ser
NM_004653.5:c.4508T>C MANE Select NP_004644.2:p.Phe1503Ser
NM_001146705.2:c.4601T>C NP_001140177.1:p.Phe1534Ser