Canonical Allele Identifier: CA2470918969

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707641A= , CM000686.2:g.19707641A=	GRCh38
NC_000024.9:g.21869527A= , CM000686.1:g.21869527A=	GRCh37
NC_000024.8:g.20328915A=	NCBI36
NG_032920.1:g.42299T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3505T= MANE Select	ENSP00000322408.4:p.Ser1169=
ENST00000317961.8:c.3505T=	ENSP00000322408.4:p.Ser1169=
ENST00000382806.6:c.3334T=	ENSP00000372256.2:p.Ser1112=
ENST00000415360.1:c.421T=	ENSP00000389433.1:p.Ser141=
ENST00000440077.5:c.3382T=	ENSP00000398543.1:p.Ser1128=
ENST00000469599.6:n.2103T=
ENST00000492117.1:n.3397T=
ENST00000541639.5:c.3598T=	ENSP00000444293.1:p.Ser1200=
NM_001146705.1:c.3598T=	NP_001140177.1:p.Ser1200=
NM_001146706.1:c.3334T=	NP_001140178.1:p.Ser1112=
NM_004653.4:c.3505T=	NP_004644.2:p.Ser1169=
XM_005262560.1:c.3370T=	XP_005262617.1:p.Ser1124=
XM_005262561.1:c.3274T=	XP_005262618.1:p.Ser1092=
XM_011531468.1:c.3427T=	XP_011529770.1:p.Ser1143=
XR_244571.2:n.3793T=
XR_430568.2:n.4127T=
XM_005262560.3:c.3370T=	XP_005262617.1:p.Ser1124=
XM_005262561.3:c.3274T=	XP_005262618.1:p.Ser1092=
XM_011531468.3:c.3427T=	XP_011529770.1:p.Ser1143=
XM_024452495.1:c.1495T=	XP_024308263.1:p.Ser499=
XM_024452496.1:c.1261T=	XP_024308264.1:p.Ser421=
XR_001756009.2:n.4243T=
XR_001756010.2:n.4243T=
XR_001756011.2:n.4108T=
XR_001756012.2:n.4256T=
XR_001756013.2:n.3574T=
XR_002958832.1:n.3675T=
XR_002958834.1:n.3899T=
XR_002958835.1:n.3782T=
XR_002958836.1:n.4465T=
XR_002958837.1:n.4272T=
XR_244571.4:n.3792T=
XR_430568.4:n.4126T=
NM_001146706.2:c.3334T=	NP_001140178.1:p.Ser1112=
NM_004653.5:c.3505T= MANE Select	NP_004644.2:p.Ser1169=
NM_001146705.2:c.3598T=	NP_001140177.1:p.Ser1200=