Canonical Allele Identifier: CA2560555520

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19705812G>T , CM000686.2:g.19705812G>T	GRCh38
NC_000024.9:g.21867698G>T , CM000686.1:g.21867698G>T	GRCh37
NC_000024.8:g.20327086G>T	NCBI36
NG_032920.1:g.44128C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000317961.9:c.*183C>A MANE Select	ENSP00000322408.4:n.*183C>A
ENST00000317961.8:c.*183C>A	ENSP00000322408.4:n.*183C>A
ENST00000382806.6:c.*183C>A	ENSP00000372256.2:n.*183C>A
ENST00000469599.6:n.3554C>A
ENST00000492117.1:n.4848C>A
ENST00000541639.5:c.*183C>A	ENSP00000444293.1:n.*183C>A
NM_001146705.1:c.*183C>A	NP_001140177.1:n.*183C>A
NM_001146706.1:c.*183C>A	NP_001140178.1:n.*183C>A
NM_004653.4:c.*183C>A	NP_004644.2:n.*183C>A
XM_005262560.1:c.*183C>A	XP_005262617.1:n.*183C>A
XM_005262561.1:c.*183C>A	XP_005262618.1:n.*183C>A
XM_011531468.1:c.*183C>A	XP_011529770.1:n.*183C>A
XR_430568.2:n.5578C>A
XM_005262560.3:c.*183C>A	XP_005262617.1:n.*183C>A
XM_005262561.3:c.*183C>A	XP_005262618.1:n.*183C>A
XM_011531468.3:c.*183C>A	XP_011529770.1:n.*183C>A
XM_024452495.1:c.*183C>A	XP_024308263.1:n.*183C>A
XM_024452496.1:c.*183C>A	XP_024308264.1:n.*183C>A
XR_001756009.2:n.5541C>A
XR_001756010.2:n.5509C>A
XR_001756011.2:n.5406C>A
XR_001756012.2:n.5554C>A
XR_001756013.2:n.4872C>A
XR_002958832.1:n.5126C>A
XR_002958834.1:n.5197C>A
XR_002958835.1:n.5080C>A
XR_002958836.1:n.5731C>A
XR_002958837.1:n.5538C>A
XR_244571.4:n.5058C>A
XR_430568.4:n.5577C>A
NM_001146706.2:c.*183C>A	NP_001140178.1:n.*183C>A
NM_004653.5:c.*183C>A MANE Select	NP_004644.2:n.*183C>A
NM_001146705.2:c.*183C>A	NP_001140177.1:n.*183C>A