Canonical Allele Identifier: CA2470919019

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708061G= , CM000686.2:g.19708061G=	GRCh38
NC_000024.9:g.21869947G= , CM000686.1:g.21869947G=	GRCh37
NC_000024.8:g.20329335G=	NCBI36
NG_032920.1:g.41879C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3272C= MANE Select	ENSP00000322408.4:p.Pro1091=
ENST00000317961.8:c.3272C=	ENSP00000322408.4:p.Pro1091=
ENST00000382806.6:c.3101C=	ENSP00000372256.2:p.Pro1034=
ENST00000415360.1:c.188C=	ENSP00000389433.1:p.Pro63=
ENST00000440077.5:c.3149C=	ENSP00000398543.1:p.Pro1050=
ENST00000469599.6:n.1870C=
ENST00000492117.1:n.3164C=
ENST00000541639.5:c.3365C=	ENSP00000444293.1:p.Pro1122=
NM_001146705.1:c.3365C=	NP_001140177.1:p.Pro1122=
NM_001146706.1:c.3101C=	NP_001140178.1:p.Pro1034=
NM_004653.4:c.3272C=	NP_004644.2:p.Pro1091=
XM_005262560.1:c.3137C=	XP_005262617.1:p.Pro1046=
XM_005262561.1:c.3041C=	XP_005262618.1:p.Pro1014=
XM_011531468.1:c.3194C=	XP_011529770.1:p.Pro1065=
XR_244571.2:n.3560C=
XR_430568.2:n.3894C=
XM_005262560.3:c.3137C=	XP_005262617.1:p.Pro1046=
XM_005262561.3:c.3041C=	XP_005262618.1:p.Pro1014=
XM_011531468.3:c.3194C=	XP_011529770.1:p.Pro1065=
XM_024452495.1:c.1262C=	XP_024308263.1:p.Pro421=
XM_024452496.1:c.1028C=	XP_024308264.1:p.Pro343=
XR_001756009.2:n.4010C=
XR_001756010.2:n.4010C=
XR_001756011.2:n.3875C=
XR_001756012.2:n.4023C=
XR_001756013.2:n.3341C=
XR_002958832.1:n.3442C=
XR_002958834.1:n.3666C=
XR_002958835.1:n.3549C=
XR_002958836.1:n.4232C=
XR_002958837.1:n.4039C=
XR_244571.4:n.3559C=
XR_430568.4:n.3893C=
NM_001146706.2:c.3101C=	NP_001140178.1:p.Pro1034=
NM_004653.5:c.3272C= MANE Select	NP_004644.2:p.Pro1091=
NM_001146705.2:c.3365C=	NP_001140177.1:p.Pro1122=