Canonical Allele Identifier: CA2470919017

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708051G= , CM000686.2:g.19708051G=	GRCh38
NC_000024.9:g.21869937G= , CM000686.1:g.21869937G=	GRCh37
NC_000024.8:g.20329325G=	NCBI36
NG_032920.1:g.41889C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3282C= MANE Select	ENSP00000322408.4:p.Asp1094=
ENST00000317961.8:c.3282C=	ENSP00000322408.4:p.Asp1094=
ENST00000382806.6:c.3111C=	ENSP00000372256.2:p.Asp1037=
ENST00000415360.1:c.198C=	ENSP00000389433.1:p.Asp66=
ENST00000440077.5:c.3159C=	ENSP00000398543.1:p.Asp1053=
ENST00000469599.6:n.1880C=
ENST00000492117.1:n.3174C=
ENST00000541639.5:c.3375C=	ENSP00000444293.1:p.Asp1125=
NM_001146705.1:c.3375C=	NP_001140177.1:p.Asp1125=
NM_001146706.1:c.3111C=	NP_001140178.1:p.Asp1037=
NM_004653.4:c.3282C=	NP_004644.2:p.Asp1094=
XM_005262560.1:c.3147C=	XP_005262617.1:p.Asp1049=
XM_005262561.1:c.3051C=	XP_005262618.1:p.Asp1017=
XM_011531468.1:c.3204C=	XP_011529770.1:p.Asp1068=
XR_244571.2:n.3570C=
XR_430568.2:n.3904C=
XM_005262560.3:c.3147C=	XP_005262617.1:p.Asp1049=
XM_005262561.3:c.3051C=	XP_005262618.1:p.Asp1017=
XM_011531468.3:c.3204C=	XP_011529770.1:p.Asp1068=
XM_024452495.1:c.1272C=	XP_024308263.1:p.Asp424=
XM_024452496.1:c.1038C=	XP_024308264.1:p.Asp346=
XR_001756009.2:n.4020C=
XR_001756010.2:n.4020C=
XR_001756011.2:n.3885C=
XR_001756012.2:n.4033C=
XR_001756013.2:n.3351C=
XR_002958832.1:n.3452C=
XR_002958834.1:n.3676C=
XR_002958835.1:n.3559C=
XR_002958836.1:n.4242C=
XR_002958837.1:n.4049C=
XR_244571.4:n.3569C=
XR_430568.4:n.3903C=
NM_001146706.2:c.3111C=	NP_001140178.1:p.Asp1037=
NM_004653.5:c.3282C= MANE Select	NP_004644.2:p.Asp1094=
NM_001146705.2:c.3375C=	NP_001140177.1:p.Asp1125=