Canonical Allele Identifier: CA2470919012

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708036G= , CM000686.2:g.19708036G=	GRCh38
NC_000024.9:g.21869922G= , CM000686.1:g.21869922G=	GRCh37
NC_000024.8:g.20329310G=	NCBI36
NG_032920.1:g.41904C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3297C= MANE Select	ENSP00000322408.4:p.Ser1099=
ENST00000317961.8:c.3297C=	ENSP00000322408.4:p.Ser1099=
ENST00000382806.6:c.3126C=	ENSP00000372256.2:p.Ser1042=
ENST00000415360.1:c.213C=	ENSP00000389433.1:p.Ser71=
ENST00000440077.5:c.3174C=	ENSP00000398543.1:p.Ser1058=
ENST00000469599.6:n.1895C=
ENST00000492117.1:n.3189C=
ENST00000541639.5:c.3390C=	ENSP00000444293.1:p.Ser1130=
NM_001146705.1:c.3390C=	NP_001140177.1:p.Ser1130=
NM_001146706.1:c.3126C=	NP_001140178.1:p.Ser1042=
NM_004653.4:c.3297C=	NP_004644.2:p.Ser1099=
XM_005262560.1:c.3162C=	XP_005262617.1:p.Ser1054=
XM_005262561.1:c.3066C=	XP_005262618.1:p.Ser1022=
XM_011531468.1:c.3219C=	XP_011529770.1:p.Ser1073=
XR_244571.2:n.3585C=
XR_430568.2:n.3919C=
XM_005262560.3:c.3162C=	XP_005262617.1:p.Ser1054=
XM_005262561.3:c.3066C=	XP_005262618.1:p.Ser1022=
XM_011531468.3:c.3219C=	XP_011529770.1:p.Ser1073=
XM_024452495.1:c.1287C=	XP_024308263.1:p.Ser429=
XM_024452496.1:c.1053C=	XP_024308264.1:p.Ser351=
XR_001756009.2:n.4035C=
XR_001756010.2:n.4035C=
XR_001756011.2:n.3900C=
XR_001756012.2:n.4048C=
XR_001756013.2:n.3366C=
XR_002958832.1:n.3467C=
XR_002958834.1:n.3691C=
XR_002958835.1:n.3574C=
XR_002958836.1:n.4257C=
XR_002958837.1:n.4064C=
XR_244571.4:n.3584C=
XR_430568.4:n.3918C=
NM_001146706.2:c.3126C=	NP_001140178.1:p.Ser1042=
NM_004653.5:c.3297C= MANE Select	NP_004644.2:p.Ser1099=
NM_001146705.2:c.3390C=	NP_001140177.1:p.Ser1130=