Canonical Allele Identifier: CA2470918942

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707378G= , CM000686.2:g.19707378G=	GRCh38
NC_000024.9:g.21869264G= , CM000686.1:g.21869264G=	GRCh37
NC_000024.8:g.20328652G=	NCBI36
NG_032920.1:g.42562C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3768C= MANE Select	ENSP00000322408.4:p.Pro1256=
ENST00000317961.8:c.3768C=	ENSP00000322408.4:p.Pro1256=
ENST00000382806.6:c.3597C=	ENSP00000372256.2:p.Pro1199=
ENST00000415360.1:c.684C=	ENSP00000389433.1:p.Pro228=
ENST00000440077.5:c.3645C=	ENSP00000398543.1:p.Pro1215=
ENST00000469599.6:n.2366C=
ENST00000492117.1:n.3660C=
ENST00000541639.5:c.3861C=	ENSP00000444293.1:p.Pro1287=
NM_001146705.1:c.3861C=	NP_001140177.1:p.Pro1287=
NM_001146706.1:c.3597C=	NP_001140178.1:p.Pro1199=
NM_004653.4:c.3768C=	NP_004644.2:p.Pro1256=
XM_005262560.1:c.3633C=	XP_005262617.1:p.Pro1211=
XM_005262561.1:c.3537C=	XP_005262618.1:p.Pro1179=
XM_011531468.1:c.3690C=	XP_011529770.1:p.Pro1230=
XR_244571.2:n.4056C=
XR_430568.2:n.4390C=
XM_005262560.3:c.3633C=	XP_005262617.1:p.Pro1211=
XM_005262561.3:c.3537C=	XP_005262618.1:p.Pro1179=
XM_011531468.3:c.3690C=	XP_011529770.1:p.Pro1230=
XM_024452495.1:c.1758C=	XP_024308263.1:p.Pro586=
XM_024452496.1:c.1524C=	XP_024308264.1:p.Pro508=
XR_001756009.2:n.4506C=
XR_001756010.2:n.4506C=
XR_001756011.2:n.4371C=
XR_001756012.2:n.4519C=
XR_001756013.2:n.3837C=
XR_002958832.1:n.3938C=
XR_002958834.1:n.4162C=
XR_002958835.1:n.4045C=
XR_002958836.1:n.4728C=
XR_002958837.1:n.4535C=
XR_244571.4:n.4055C=
XR_430568.4:n.4389C=
NM_001146706.2:c.3597C=	NP_001140178.1:p.Pro1199=
NM_004653.5:c.3768C= MANE Select	NP_004644.2:p.Pro1256=
NM_001146705.2:c.3861C=	NP_001140177.1:p.Pro1287=