Canonical Allele Identifier: CA2470918780

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706182C= , CM000686.2:g.19706182C=	GRCh38
NC_000024.9:g.21868068C= , CM000686.1:g.21868068C=	GRCh37
NC_000024.8:g.20327456C=	NCBI36
NG_032920.1:g.43758G=

Transcript Alleles

HGVS	Amino-acid Change
NM_004653.5:c.4433G= MANE Select	NP_004644.2:p.Arg1478=
ENST00000317961.9:c.4433G= MANE Select	ENSP00000322408.4:p.Arg1478=
NM_001146705.1:c.4526G=	NP_001140177.1:p.Arg1509=
NM_001146705.2:c.4526G=	NP_001140177.1:p.Arg1509=
NM_001146706.1:c.4262G=	NP_001140178.1:p.Arg1421=
NM_001146706.2:c.4262G=	NP_001140178.1:p.Arg1421=
NM_004653.4:c.4433G=	NP_004644.2:p.Arg1478=
ENST00000317961.8:c.4433G=	ENSP00000322408.4:p.Arg1478=
ENST00000382806.6:c.4262G=	ENSP00000372256.2:p.Arg1421=
ENST00000440077.5:c.4310G=	ENSP00000398543.1:p.Arg1437=
ENST00000469599.6:n.3184G=
ENST00000492117.1:n.4478G=
ENST00000541639.5:c.4526G=	ENSP00000444293.1:p.Arg1509=
XM_005262560.1:c.4298G=	XP_005262617.1:p.Arg1433=
XM_005262560.3:c.4298G=	XP_005262617.1:p.Arg1433=
XM_005262561.1:c.4202G=	XP_005262618.1:p.Arg1401=
XM_005262561.3:c.4202G=	XP_005262618.1:p.Arg1401=
XM_011531468.1:c.4355G=	XP_011529770.1:p.Arg1452=
XM_011531468.3:c.4355G=	XP_011529770.1:p.Arg1452=
XM_024452495.1:c.2423G=	XP_024308263.1:p.Arg808=
XM_024452496.1:c.2189G=	XP_024308264.1:p.Arg730=
XR_001756009.2:n.5171G=
XR_001756010.2:n.5139G=
XR_001756011.2:n.5036G=
XR_001756012.2:n.5184G=
XR_001756013.2:n.4502G=
XR_002958832.1:n.4756G=
XR_002958834.1:n.4827G=
XR_002958835.1:n.4710G=
XR_002958836.1:n.5361G=
XR_002958837.1:n.5168G=
XR_244571.4:n.4688G=
XR_430568.2:n.5208G=
XR_430568.4:n.5207G=