Canonical Allele Identifier: CA2470918963

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707608C= , CM000686.2:g.19707608C=	GRCh38
NC_000024.9:g.21869494C= , CM000686.1:g.21869494C=	GRCh37
NC_000024.8:g.20328882C=	NCBI36
NG_032920.1:g.42332G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3538G= MANE Select	ENSP00000322408.4:p.Val1180=
ENST00000317961.8:c.3538G=	ENSP00000322408.4:p.Val1180=
ENST00000382806.6:c.3367G=	ENSP00000372256.2:p.Val1123=
ENST00000415360.1:c.454G=	ENSP00000389433.1:p.Val152=
ENST00000440077.5:c.3415G=	ENSP00000398543.1:p.Val1139=
ENST00000469599.6:n.2136G=
ENST00000492117.1:n.3430G=
ENST00000541639.5:c.3631G=	ENSP00000444293.1:p.Val1211=
NM_001146705.1:c.3631G=	NP_001140177.1:p.Val1211=
NM_001146706.1:c.3367G=	NP_001140178.1:p.Val1123=
NM_004653.4:c.3538G=	NP_004644.2:p.Val1180=
XM_005262560.1:c.3403G=	XP_005262617.1:p.Val1135=
XM_005262561.1:c.3307G=	XP_005262618.1:p.Val1103=
XM_011531468.1:c.3460G=	XP_011529770.1:p.Val1154=
XR_244571.2:n.3826G=
XR_430568.2:n.4160G=
XM_005262560.3:c.3403G=	XP_005262617.1:p.Val1135=
XM_005262561.3:c.3307G=	XP_005262618.1:p.Val1103=
XM_011531468.3:c.3460G=	XP_011529770.1:p.Val1154=
XM_024452495.1:c.1528G=	XP_024308263.1:p.Val510=
XM_024452496.1:c.1294G=	XP_024308264.1:p.Val432=
XR_001756009.2:n.4276G=
XR_001756010.2:n.4276G=
XR_001756011.2:n.4141G=
XR_001756012.2:n.4289G=
XR_001756013.2:n.3607G=
XR_002958832.1:n.3708G=
XR_002958834.1:n.3932G=
XR_002958835.1:n.3815G=
XR_002958836.1:n.4498G=
XR_002958837.1:n.4305G=
XR_244571.4:n.3825G=
XR_430568.4:n.4159G=
NM_001146706.2:c.3367G=	NP_001140178.1:p.Val1123=
NM_004653.5:c.3538G= MANE Select	NP_004644.2:p.Val1180=
NM_001146705.2:c.3631G=	NP_001140177.1:p.Val1211=