Canonical Allele Identifier: CA2541711573
Gene: KDM5D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706690G>T , CM000686.2:g.19706690G>T GRCh38
NC_000024.9:g.21868576G>T , CM000686.1:g.21868576G>T GRCh37
NC_000024.8:g.20327964G>T NCBI36
NG_032920.1:g.43250C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4070-50C>A MANE Select ENSP00000322408.4:n.4070-50C>A
ENST00000317961.8:c.4070-50C>A ENSP00000322408.4:n.4070-50C>A
ENST00000382806.6:c.3899-50C>A ENSP00000372256.2:n.3899-50C>A
ENST00000440077.5:c.3947-50C>A ENSP00000398543.1:n.3947-50C>A
ENST00000469599.6:n.2771C>A
ENST00000492117.1:n.4065C>A
ENST00000541639.5:c.4163-50C>A ENSP00000444293.1:n.4163-50C>A
NM_001146705.1:c.4163-50C>A NP_001140177.1:n.4163-50C>A
NM_001146706.1:c.3899-50C>A NP_001140178.1:n.3899-50C>A
NM_004653.4:c.4070-50C>A NP_004644.2:n.4070-50C>A
XM_005262560.1:c.3935-50C>A XP_005262617.1:n.3935-50C>A
XM_005262561.1:c.3839-50C>A XP_005262618.1:n.3839-50C>A
XM_011531468.1:c.3992-50C>A XP_011529770.1:n.3992-50C>A
XR_244571.2:n.4358-82C>A
XR_430568.2:n.4795C>A
XM_005262560.3:c.3935-50C>A XP_005262617.1:n.3935-50C>A
XM_005262561.3:c.3839-50C>A XP_005262618.1:n.3839-50C>A
XM_011531468.3:c.3992-50C>A XP_011529770.1:n.3992-50C>A
XM_024452495.1:c.2060-50C>A XP_024308263.1:n.2060-50C>A
XM_024452496.1:c.1826-50C>A XP_024308264.1:n.1826-50C>A
XR_001756009.2:n.4808-50C>A
XR_001756010.2:n.4808-82C>A
XR_001756011.2:n.4673-50C>A
XR_001756012.2:n.4821-50C>A
XR_001756013.2:n.4139-50C>A
XR_002958832.1:n.4343C>A
XR_002958834.1:n.4464-50C>A
XR_002958835.1:n.4347-50C>A
XR_002958836.1:n.5030-82C>A
XR_002958837.1:n.4837-82C>A
XR_244571.4:n.4357-82C>A
XR_430568.4:n.4794C>A
NM_001146706.2:c.3899-50C>A NP_001140178.1:n.3899-50C>A
NM_004653.5:c.4070-50C>A MANE Select NP_004644.2:n.4070-50C>A
NM_001146705.2:c.4163-50C>A NP_001140177.1:n.4163-50C>A