Canonical Allele Identifier: CA2766253104

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19705865A>G , CM000686.2:g.19705865A>G	GRCh38
NC_000024.9:g.21867751A>G , CM000686.1:g.21867751A>G	GRCh37
NC_000024.8:g.20327139A>G	NCBI36
NG_032920.1:g.44075T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.*130T>C MANE Select	ENSP00000322408.4:n.*130T>C
ENST00000317961.8:c.*130T>C	ENSP00000322408.4:n.*130T>C
ENST00000382806.6:c.*130T>C	ENSP00000372256.2:n.*130T>C
ENST00000469599.6:n.3501T>C
ENST00000492117.1:n.4795T>C
ENST00000541639.5:c.*130T>C	ENSP00000444293.1:n.*130T>C
NM_001146705.1:c.*130T>C	NP_001140177.1:n.*130T>C
NM_001146706.1:c.*130T>C	NP_001140178.1:n.*130T>C
NM_004653.4:c.*130T>C	NP_004644.2:n.*130T>C
XM_005262560.1:c.*130T>C	XP_005262617.1:n.*130T>C
XM_005262561.1:c.*130T>C	XP_005262618.1:n.*130T>C
XM_011531468.1:c.*130T>C	XP_011529770.1:n.*130T>C
XR_430568.2:n.5525T>C
XM_005262560.3:c.*130T>C	XP_005262617.1:n.*130T>C
XM_005262561.3:c.*130T>C	XP_005262618.1:n.*130T>C
XM_011531468.3:c.*130T>C	XP_011529770.1:n.*130T>C
XM_024452495.1:c.*130T>C	XP_024308263.1:n.*130T>C
XM_024452496.1:c.*130T>C	XP_024308264.1:n.*130T>C
XR_001756009.2:n.5488T>C
XR_001756010.2:n.5456T>C
XR_001756011.2:n.5353T>C
XR_001756012.2:n.5501T>C
XR_001756013.2:n.4819T>C
XR_002958832.1:n.5073T>C
XR_002958834.1:n.5144T>C
XR_002958835.1:n.5027T>C
XR_002958836.1:n.5678T>C
XR_002958837.1:n.5485T>C
XR_244571.4:n.5005T>C
XR_430568.4:n.5524T>C
NM_001146706.2:c.*130T>C	NP_001140178.1:n.*130T>C
NM_004653.5:c.*130T>C MANE Select	NP_004644.2:n.*130T>C
NM_001146705.2:c.*130T>C	NP_001140177.1:n.*130T>C