Canonical Allele Identifier: CA2766253139

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19705933A>G , CM000686.2:g.19705933A>G	GRCh38
NC_000024.9:g.21867819A>G , CM000686.1:g.21867819A>G	GRCh37
NC_000024.8:g.20327207A>G	NCBI36
NG_032920.1:g.44007T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000317961.9:c.*62T>C MANE Select	ENSP00000322408.4:n.*62T>C
ENST00000317961.8:c.*62T>C	ENSP00000322408.4:n.*62T>C
ENST00000382806.6:c.*62T>C	ENSP00000372256.2:n.*62T>C
ENST00000469599.6:n.3433T>C
ENST00000492117.1:n.4727T>C
ENST00000541639.5:c.*62T>C	ENSP00000444293.1:n.*62T>C
NM_001146705.1:c.*62T>C	NP_001140177.1:n.*62T>C
NM_001146706.1:c.*62T>C	NP_001140178.1:n.*62T>C
NM_004653.4:c.*62T>C	NP_004644.2:n.*62T>C
XM_005262560.1:c.*62T>C	XP_005262617.1:n.*62T>C
XM_005262561.1:c.*62T>C	XP_005262618.1:n.*62T>C
XM_011531468.1:c.*62T>C	XP_011529770.1:n.*62T>C
XR_430568.2:n.5457T>C
XM_005262560.3:c.*62T>C	XP_005262617.1:n.*62T>C
XM_005262561.3:c.*62T>C	XP_005262618.1:n.*62T>C
XM_011531468.3:c.*62T>C	XP_011529770.1:n.*62T>C
XM_024452495.1:c.*62T>C	XP_024308263.1:n.*62T>C
XM_024452496.1:c.*62T>C	XP_024308264.1:n.*62T>C
XR_001756009.2:n.5420T>C
XR_001756010.2:n.5388T>C
XR_001756011.2:n.5285T>C
XR_001756012.2:n.5433T>C
XR_001756013.2:n.4751T>C
XR_002958832.1:n.5005T>C
XR_002958834.1:n.5076T>C
XR_002958835.1:n.4959T>C
XR_002958836.1:n.5610T>C
XR_002958837.1:n.5417T>C
XR_244571.4:n.4937T>C
XR_430568.4:n.5456T>C
NM_001146706.2:c.*62T>C	NP_001140178.1:n.*62T>C
NM_004653.5:c.*62T>C MANE Select	NP_004644.2:n.*62T>C
NM_001146705.2:c.*62T>C	NP_001140177.1:n.*62T>C