Canonical Allele Identifier: CA2470919016

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708050C= , CM000686.2:g.19708050C=	GRCh38
NC_000024.9:g.21869936C= , CM000686.1:g.21869936C=	GRCh37
NC_000024.8:g.20329324C=	NCBI36
NG_032920.1:g.41890G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3283G= MANE Select	ENSP00000322408.4:p.Ala1095=
ENST00000317961.8:c.3283G=	ENSP00000322408.4:p.Ala1095=
ENST00000382806.6:c.3112G=	ENSP00000372256.2:p.Ala1038=
ENST00000415360.1:c.199G=	ENSP00000389433.1:p.Ala67=
ENST00000440077.5:c.3160G=	ENSP00000398543.1:p.Ala1054=
ENST00000469599.6:n.1881G=
ENST00000492117.1:n.3175G=
ENST00000541639.5:c.3376G=	ENSP00000444293.1:p.Ala1126=
NM_001146705.1:c.3376G=	NP_001140177.1:p.Ala1126=
NM_001146706.1:c.3112G=	NP_001140178.1:p.Ala1038=
NM_004653.4:c.3283G=	NP_004644.2:p.Ala1095=
XM_005262560.1:c.3148G=	XP_005262617.1:p.Ala1050=
XM_005262561.1:c.3052G=	XP_005262618.1:p.Ala1018=
XM_011531468.1:c.3205G=	XP_011529770.1:p.Ala1069=
XR_244571.2:n.3571G=
XR_430568.2:n.3905G=
XM_005262560.3:c.3148G=	XP_005262617.1:p.Ala1050=
XM_005262561.3:c.3052G=	XP_005262618.1:p.Ala1018=
XM_011531468.3:c.3205G=	XP_011529770.1:p.Ala1069=
XM_024452495.1:c.1273G=	XP_024308263.1:p.Ala425=
XM_024452496.1:c.1039G=	XP_024308264.1:p.Ala347=
XR_001756009.2:n.4021G=
XR_001756010.2:n.4021G=
XR_001756011.2:n.3886G=
XR_001756012.2:n.4034G=
XR_001756013.2:n.3352G=
XR_002958832.1:n.3453G=
XR_002958834.1:n.3677G=
XR_002958835.1:n.3560G=
XR_002958836.1:n.4243G=
XR_002958837.1:n.4050G=
XR_244571.4:n.3570G=
XR_430568.4:n.3904G=
NM_001146706.2:c.3112G=	NP_001140178.1:p.Ala1038=
NM_004653.5:c.3283G= MANE Select	NP_004644.2:p.Ala1095=
NM_001146705.2:c.3376G=	NP_001140177.1:p.Ala1126=