Canonical Allele Identifier: CA337439777
Gene: KDM5D HGNC NCBI

Linked Data

dbSNP Id: rs1035662455

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19705817G>A , CM000686.2:g.19705817G>A GRCh38
NC_000024.9:g.21867703G>A , CM000686.1:g.21867703G>A GRCh37
NC_000024.8:g.20327091G>A NCBI36
NG_032920.1:g.44123C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000317961.9:c.*178C>T MANE Select ENSP00000322408.4:n.*178C>T
ENST00000317961.8:c.*178C>T ENSP00000322408.4:n.*178C>T
ENST00000382806.6:c.*178C>T ENSP00000372256.2:n.*178C>T
ENST00000469599.6:n.3549C>T
ENST00000492117.1:n.4843C>T
ENST00000541639.5:c.*178C>T ENSP00000444293.1:n.*178C>T
NM_001146705.1:c.*178C>T NP_001140177.1:n.*178C>T
NM_001146706.1:c.*178C>T NP_001140178.1:n.*178C>T
NM_004653.4:c.*178C>T NP_004644.2:n.*178C>T
XM_005262560.1:c.*178C>T XP_005262617.1:n.*178C>T
XM_005262561.1:c.*178C>T XP_005262618.1:n.*178C>T
XM_011531468.1:c.*178C>T XP_011529770.1:n.*178C>T
XR_430568.2:n.5573C>T
XM_005262560.3:c.*178C>T XP_005262617.1:n.*178C>T
XM_005262561.3:c.*178C>T XP_005262618.1:n.*178C>T
XM_011531468.3:c.*178C>T XP_011529770.1:n.*178C>T
XM_024452495.1:c.*178C>T XP_024308263.1:n.*178C>T
XM_024452496.1:c.*178C>T XP_024308264.1:n.*178C>T
XR_001756009.2:n.5536C>T
XR_001756010.2:n.5504C>T
XR_001756011.2:n.5401C>T
XR_001756012.2:n.5549C>T
XR_001756013.2:n.4867C>T
XR_002958832.1:n.5121C>T
XR_002958834.1:n.5192C>T
XR_002958835.1:n.5075C>T
XR_002958836.1:n.5726C>T
XR_002958837.1:n.5533C>T
XR_244571.4:n.5053C>T
XR_430568.4:n.5572C>T
NM_001146706.2:c.*178C>T NP_001140178.1:n.*178C>T
NM_004653.5:c.*178C>T MANE Select NP_004644.2:n.*178C>T
NM_001146705.2:c.*178C>T NP_001140177.1:n.*178C>T