Canonical Allele Identifier: CA2470918974

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707675G= , CM000686.2:g.19707675G=	GRCh38
NC_000024.9:g.21869561G= , CM000686.1:g.21869561G=	GRCh37
NC_000024.8:g.20328949G=	NCBI36
NG_032920.1:g.42265C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3471C= MANE Select	ENSP00000322408.4:p.Ala1157=
ENST00000317961.8:c.3471C=	ENSP00000322408.4:p.Ala1157=
ENST00000382806.6:c.3300C=	ENSP00000372256.2:p.Ala1100=
ENST00000415360.1:c.387C=	ENSP00000389433.1:p.Ala129=
ENST00000440077.5:c.3348C=	ENSP00000398543.1:p.Ala1116=
ENST00000469599.6:n.2069C=
ENST00000492117.1:n.3363C=
ENST00000541639.5:c.3564C=	ENSP00000444293.1:p.Ala1188=
NM_001146705.1:c.3564C=	NP_001140177.1:p.Ala1188=
NM_001146706.1:c.3300C=	NP_001140178.1:p.Ala1100=
NM_004653.4:c.3471C=	NP_004644.2:p.Ala1157=
XM_005262560.1:c.3336C=	XP_005262617.1:p.Ala1112=
XM_005262561.1:c.3240C=	XP_005262618.1:p.Ala1080=
XM_011531468.1:c.3393C=	XP_011529770.1:p.Ala1131=
XR_244571.2:n.3759C=
XR_430568.2:n.4093C=
XM_005262560.3:c.3336C=	XP_005262617.1:p.Ala1112=
XM_005262561.3:c.3240C=	XP_005262618.1:p.Ala1080=
XM_011531468.3:c.3393C=	XP_011529770.1:p.Ala1131=
XM_024452495.1:c.1461C=	XP_024308263.1:p.Ala487=
XM_024452496.1:c.1227C=	XP_024308264.1:p.Ala409=
XR_001756009.2:n.4209C=
XR_001756010.2:n.4209C=
XR_001756011.2:n.4074C=
XR_001756012.2:n.4222C=
XR_001756013.2:n.3540C=
XR_002958832.1:n.3641C=
XR_002958834.1:n.3865C=
XR_002958835.1:n.3748C=
XR_002958836.1:n.4431C=
XR_002958837.1:n.4238C=
XR_244571.4:n.3758C=
XR_430568.4:n.4092C=
NM_001146706.2:c.3300C=	NP_001140178.1:p.Ala1100=
NM_004653.5:c.3471C= MANE Select	NP_004644.2:p.Ala1157=
NM_001146705.2:c.3564C=	NP_001140177.1:p.Ala1188=