Canonical Allele Identifier: CA2766253128

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19705898A>C , CM000686.2:g.19705898A>C	GRCh38
NC_000024.9:g.21867784A>C , CM000686.1:g.21867784A>C	GRCh37
NC_000024.8:g.20327172A>C	NCBI36
NG_032920.1:g.44042T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000317961.9:c.*97T>G MANE Select	ENSP00000322408.4:n.*97T>G
ENST00000317961.8:c.*97T>G	ENSP00000322408.4:n.*97T>G
ENST00000382806.6:c.*97T>G	ENSP00000372256.2:n.*97T>G
ENST00000469599.6:n.3468T>G
ENST00000492117.1:n.4762T>G
ENST00000541639.5:c.*97T>G	ENSP00000444293.1:n.*97T>G
NM_001146705.1:c.*97T>G	NP_001140177.1:n.*97T>G
NM_001146706.1:c.*97T>G	NP_001140178.1:n.*97T>G
NM_004653.4:c.*97T>G	NP_004644.2:n.*97T>G
XM_005262560.1:c.*97T>G	XP_005262617.1:n.*97T>G
XM_005262561.1:c.*97T>G	XP_005262618.1:n.*97T>G
XM_011531468.1:c.*97T>G	XP_011529770.1:n.*97T>G
XR_430568.2:n.5492T>G
XM_005262560.3:c.*97T>G	XP_005262617.1:n.*97T>G
XM_005262561.3:c.*97T>G	XP_005262618.1:n.*97T>G
XM_011531468.3:c.*97T>G	XP_011529770.1:n.*97T>G
XM_024452495.1:c.*97T>G	XP_024308263.1:n.*97T>G
XM_024452496.1:c.*97T>G	XP_024308264.1:n.*97T>G
XR_001756009.2:n.5455T>G
XR_001756010.2:n.5423T>G
XR_001756011.2:n.5320T>G
XR_001756012.2:n.5468T>G
XR_001756013.2:n.4786T>G
XR_002958832.1:n.5040T>G
XR_002958834.1:n.5111T>G
XR_002958835.1:n.4994T>G
XR_002958836.1:n.5645T>G
XR_002958837.1:n.5452T>G
XR_244571.4:n.4972T>G
XR_430568.4:n.5491T>G
NM_001146706.2:c.*97T>G	NP_001140178.1:n.*97T>G
NM_004653.5:c.*97T>G MANE Select	NP_004644.2:n.*97T>G
NM_001146705.2:c.*97T>G	NP_001140177.1:n.*97T>G