Canonical Allele Identifier: CA2521567195

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19705900A>G , CM000686.2:g.19705900A>G	GRCh38
NC_000024.9:g.21867786A>G , CM000686.1:g.21867786A>G	GRCh37
NC_000024.8:g.20327174A>G	NCBI36
NG_032920.1:g.44040T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000317961.9:c.*95T>C MANE Select	ENSP00000322408.4:n.*95T>C
ENST00000317961.8:c.*95T>C	ENSP00000322408.4:n.*95T>C
ENST00000382806.6:c.*95T>C	ENSP00000372256.2:n.*95T>C
ENST00000469599.6:n.3466T>C
ENST00000492117.1:n.4760T>C
ENST00000541639.5:c.*95T>C	ENSP00000444293.1:n.*95T>C
NM_001146705.1:c.*95T>C	NP_001140177.1:n.*95T>C
NM_001146706.1:c.*95T>C	NP_001140178.1:n.*95T>C
NM_004653.4:c.*95T>C	NP_004644.2:n.*95T>C
XM_005262560.1:c.*95T>C	XP_005262617.1:n.*95T>C
XM_005262561.1:c.*95T>C	XP_005262618.1:n.*95T>C
XM_011531468.1:c.*95T>C	XP_011529770.1:n.*95T>C
XR_430568.2:n.5490T>C
XM_005262560.3:c.*95T>C	XP_005262617.1:n.*95T>C
XM_005262561.3:c.*95T>C	XP_005262618.1:n.*95T>C
XM_011531468.3:c.*95T>C	XP_011529770.1:n.*95T>C
XM_024452495.1:c.*95T>C	XP_024308263.1:n.*95T>C
XM_024452496.1:c.*95T>C	XP_024308264.1:n.*95T>C
XR_001756009.2:n.5453T>C
XR_001756010.2:n.5421T>C
XR_001756011.2:n.5318T>C
XR_001756012.2:n.5466T>C
XR_001756013.2:n.4784T>C
XR_002958832.1:n.5038T>C
XR_002958834.1:n.5109T>C
XR_002958835.1:n.4992T>C
XR_002958836.1:n.5643T>C
XR_002958837.1:n.5450T>C
XR_244571.4:n.4970T>C
XR_430568.4:n.5489T>C
NM_001146706.2:c.*95T>C	NP_001140178.1:n.*95T>C
NM_004653.5:c.*95T>C MANE Select	NP_004644.2:n.*95T>C
NM_001146705.2:c.*95T>C	NP_001140177.1:n.*95T>C