Canonical Allele Identifier: CA2766253122

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19705892T>G , CM000686.2:g.19705892T>G	GRCh38
NC_000024.9:g.21867778T>G , CM000686.1:g.21867778T>G	GRCh37
NC_000024.8:g.20327166T>G	NCBI36
NG_032920.1:g.44048A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.*103A>C MANE Select	ENSP00000322408.4:n.*103A>C
ENST00000317961.8:c.*103A>C	ENSP00000322408.4:n.*103A>C
ENST00000382806.6:c.*103A>C	ENSP00000372256.2:n.*103A>C
ENST00000469599.6:n.3474A>C
ENST00000492117.1:n.4768A>C
ENST00000541639.5:c.*103A>C	ENSP00000444293.1:n.*103A>C
NM_001146705.1:c.*103A>C	NP_001140177.1:n.*103A>C
NM_001146706.1:c.*103A>C	NP_001140178.1:n.*103A>C
NM_004653.4:c.*103A>C	NP_004644.2:n.*103A>C
XM_005262560.1:c.*103A>C	XP_005262617.1:n.*103A>C
XM_005262561.1:c.*103A>C	XP_005262618.1:n.*103A>C
XM_011531468.1:c.*103A>C	XP_011529770.1:n.*103A>C
XR_430568.2:n.5498A>C
XM_005262560.3:c.*103A>C	XP_005262617.1:n.*103A>C
XM_005262561.3:c.*103A>C	XP_005262618.1:n.*103A>C
XM_011531468.3:c.*103A>C	XP_011529770.1:n.*103A>C
XM_024452495.1:c.*103A>C	XP_024308263.1:n.*103A>C
XM_024452496.1:c.*103A>C	XP_024308264.1:n.*103A>C
XR_001756009.2:n.5461A>C
XR_001756010.2:n.5429A>C
XR_001756011.2:n.5326A>C
XR_001756012.2:n.5474A>C
XR_001756013.2:n.4792A>C
XR_002958832.1:n.5046A>C
XR_002958834.1:n.5117A>C
XR_002958835.1:n.5000A>C
XR_002958836.1:n.5651A>C
XR_002958837.1:n.5458A>C
XR_244571.4:n.4978A>C
XR_430568.4:n.5497A>C
NM_001146706.2:c.*103A>C	NP_001140178.1:n.*103A>C
NM_004653.5:c.*103A>C MANE Select	NP_004644.2:n.*103A>C
NM_001146705.2:c.*103A>C	NP_001140177.1:n.*103A>C