Canonical Allele Identifier: CA2470918959

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707568T= , CM000686.2:g.19707568T=	GRCh38
NC_000024.9:g.21869454T= , CM000686.1:g.21869454T=	GRCh37
NC_000024.8:g.20328842T=	NCBI36
NG_032920.1:g.42372A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3578A= MANE Select	ENSP00000322408.4:p.Gln1193=
ENST00000317961.8:c.3578A=	ENSP00000322408.4:p.Gln1193=
ENST00000382806.6:c.3407A=	ENSP00000372256.2:p.Gln1136=
ENST00000415360.1:c.494A=	ENSP00000389433.1:p.Gln165=
ENST00000440077.5:c.3455A=	ENSP00000398543.1:p.Gln1152=
ENST00000469599.6:n.2176A=
ENST00000492117.1:n.3470A=
ENST00000541639.5:c.3671A=	ENSP00000444293.1:p.Gln1224=
NM_001146705.1:c.3671A=	NP_001140177.1:p.Gln1224=
NM_001146706.1:c.3407A=	NP_001140178.1:p.Gln1136=
NM_004653.4:c.3578A=	NP_004644.2:p.Gln1193=
XM_005262560.1:c.3443A=	XP_005262617.1:p.Gln1148=
XM_005262561.1:c.3347A=	XP_005262618.1:p.Gln1116=
XM_011531468.1:c.3500A=	XP_011529770.1:p.Gln1167=
XR_244571.2:n.3866A=
XR_430568.2:n.4200A=
XM_005262560.3:c.3443A=	XP_005262617.1:p.Gln1148=
XM_005262561.3:c.3347A=	XP_005262618.1:p.Gln1116=
XM_011531468.3:c.3500A=	XP_011529770.1:p.Gln1167=
XM_024452495.1:c.1568A=	XP_024308263.1:p.Gln523=
XM_024452496.1:c.1334A=	XP_024308264.1:p.Gln445=
XR_001756009.2:n.4316A=
XR_001756010.2:n.4316A=
XR_001756011.2:n.4181A=
XR_001756012.2:n.4329A=
XR_001756013.2:n.3647A=
XR_002958832.1:n.3748A=
XR_002958834.1:n.3972A=
XR_002958835.1:n.3855A=
XR_002958836.1:n.4538A=
XR_002958837.1:n.4345A=
XR_244571.4:n.3865A=
XR_430568.4:n.4199A=
NM_001146706.2:c.3407A=	NP_001140178.1:p.Gln1136=
NM_004653.5:c.3578A= MANE Select	NP_004644.2:p.Gln1193=
NM_001146705.2:c.3671A=	NP_001140177.1:p.Gln1224=