Canonical Allele Identifier: CA2470918745

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19705801G= , CM000686.2:g.19705801G=	GRCh38
NC_000024.9:g.21867687G= , CM000686.1:g.21867687G=	GRCh37
NC_000024.8:g.20327075G=	NCBI36
NG_032920.1:g.44139C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000317961.9:c.*194C= MANE Select	ENSP00000322408.4:n.*194C=
ENST00000317961.8:c.*194C=	ENSP00000322408.4:n.*194C=
ENST00000382806.6:c.*194C=	ENSP00000372256.2:n.*194C=
ENST00000469599.6:n.3565C=
ENST00000492117.1:n.4859C=
ENST00000541639.5:c.*194C=	ENSP00000444293.1:n.*194C=
NM_001146705.1:c.*194C=	NP_001140177.1:n.*194C=
NM_001146706.1:c.*194C=	NP_001140178.1:n.*194C=
NM_004653.4:c.*194C=	NP_004644.2:n.*194C=
XM_005262560.1:c.*194C=	XP_005262617.1:n.*194C=
XM_005262561.1:c.*194C=	XP_005262618.1:n.*194C=
XM_011531468.1:c.*194C=	XP_011529770.1:n.*194C=
XR_430568.2:n.5589C=
XM_005262560.3:c.*194C=	XP_005262617.1:n.*194C=
XM_005262561.3:c.*194C=	XP_005262618.1:n.*194C=
XM_011531468.3:c.*194C=	XP_011529770.1:n.*194C=
XM_024452495.1:c.*194C=	XP_024308263.1:n.*194C=
XM_024452496.1:c.*194C=	XP_024308264.1:n.*194C=
XR_001756009.2:n.5552C=
XR_001756010.2:n.5520C=
XR_001756011.2:n.5417C=
XR_001756012.2:n.5565C=
XR_001756013.2:n.4883C=
XR_002958832.1:n.5137C=
XR_002958834.1:n.5208C=
XR_002958835.1:n.5091C=
XR_002958836.1:n.5742C=
XR_002958837.1:n.5549C=
XR_244571.4:n.5069C=
XR_430568.4:n.5588C=
NM_001146706.2:c.*194C=	NP_001140178.1:n.*194C=
NM_004653.5:c.*194C= MANE Select	NP_004644.2:n.*194C=
NM_001146705.2:c.*194C=	NP_001140177.1:n.*194C=