Canonical Allele Identifier: CA2470918958

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707549C= , CM000686.2:g.19707549C=	GRCh38
NC_000024.9:g.21869435C= , CM000686.1:g.21869435C=	GRCh37
NC_000024.8:g.20328823C=	NCBI36
NG_032920.1:g.42391G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3597G= MANE Select	ENSP00000322408.4:p.Gln1199=
ENST00000317961.8:c.3597G=	ENSP00000322408.4:p.Gln1199=
ENST00000382806.6:c.3426G=	ENSP00000372256.2:p.Gln1142=
ENST00000415360.1:c.513G=	ENSP00000389433.1:p.Gln171=
ENST00000440077.5:c.3474G=	ENSP00000398543.1:p.Gln1158=
ENST00000469599.6:n.2195G=
ENST00000492117.1:n.3489G=
ENST00000541639.5:c.3690G=	ENSP00000444293.1:p.Gln1230=
NM_001146705.1:c.3690G=	NP_001140177.1:p.Gln1230=
NM_001146706.1:c.3426G=	NP_001140178.1:p.Gln1142=
NM_004653.4:c.3597G=	NP_004644.2:p.Gln1199=
XM_005262560.1:c.3462G=	XP_005262617.1:p.Gln1154=
XM_005262561.1:c.3366G=	XP_005262618.1:p.Gln1122=
XM_011531468.1:c.3519G=	XP_011529770.1:p.Gln1173=
XR_244571.2:n.3885G=
XR_430568.2:n.4219G=
XM_005262560.3:c.3462G=	XP_005262617.1:p.Gln1154=
XM_005262561.3:c.3366G=	XP_005262618.1:p.Gln1122=
XM_011531468.3:c.3519G=	XP_011529770.1:p.Gln1173=
XM_024452495.1:c.1587G=	XP_024308263.1:p.Gln529=
XM_024452496.1:c.1353G=	XP_024308264.1:p.Gln451=
XR_001756009.2:n.4335G=
XR_001756010.2:n.4335G=
XR_001756011.2:n.4200G=
XR_001756012.2:n.4348G=
XR_001756013.2:n.3666G=
XR_002958832.1:n.3767G=
XR_002958834.1:n.3991G=
XR_002958835.1:n.3874G=
XR_002958836.1:n.4557G=
XR_002958837.1:n.4364G=
XR_244571.4:n.3884G=
XR_430568.4:n.4218G=
NM_001146706.2:c.3426G=	NP_001140178.1:p.Gln1142=
NM_004653.5:c.3597G= MANE Select	NP_004644.2:p.Gln1199=
NM_001146705.2:c.3690G=	NP_001140177.1:p.Gln1230=