Canonical Allele Identifier: CA2470918960

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707590C= , CM000686.2:g.19707590C=	GRCh38
NC_000024.9:g.21869476C= , CM000686.1:g.21869476C=	GRCh37
NC_000024.8:g.20328864C=	NCBI36
NG_032920.1:g.42350G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3556G= MANE Select	ENSP00000322408.4:p.Val1186=
ENST00000317961.8:c.3556G=	ENSP00000322408.4:p.Val1186=
ENST00000382806.6:c.3385G=	ENSP00000372256.2:p.Val1129=
ENST00000415360.1:c.472G=	ENSP00000389433.1:p.Val158=
ENST00000440077.5:c.3433G=	ENSP00000398543.1:p.Val1145=
ENST00000469599.6:n.2154G=
ENST00000492117.1:n.3448G=
ENST00000541639.5:c.3649G=	ENSP00000444293.1:p.Val1217=
NM_001146705.1:c.3649G=	NP_001140177.1:p.Val1217=
NM_001146706.1:c.3385G=	NP_001140178.1:p.Val1129=
NM_004653.4:c.3556G=	NP_004644.2:p.Val1186=
XM_005262560.1:c.3421G=	XP_005262617.1:p.Val1141=
XM_005262561.1:c.3325G=	XP_005262618.1:p.Val1109=
XM_011531468.1:c.3478G=	XP_011529770.1:p.Val1160=
XR_244571.2:n.3844G=
XR_430568.2:n.4178G=
XM_005262560.3:c.3421G=	XP_005262617.1:p.Val1141=
XM_005262561.3:c.3325G=	XP_005262618.1:p.Val1109=
XM_011531468.3:c.3478G=	XP_011529770.1:p.Val1160=
XM_024452495.1:c.1546G=	XP_024308263.1:p.Val516=
XM_024452496.1:c.1312G=	XP_024308264.1:p.Val438=
XR_001756009.2:n.4294G=
XR_001756010.2:n.4294G=
XR_001756011.2:n.4159G=
XR_001756012.2:n.4307G=
XR_001756013.2:n.3625G=
XR_002958832.1:n.3726G=
XR_002958834.1:n.3950G=
XR_002958835.1:n.3833G=
XR_002958836.1:n.4516G=
XR_002958837.1:n.4323G=
XR_244571.4:n.3843G=
XR_430568.4:n.4177G=
NM_001146706.2:c.3385G=	NP_001140178.1:p.Val1129=
NM_004653.5:c.3556G= MANE Select	NP_004644.2:p.Val1186=
NM_001146705.2:c.3649G=	NP_001140177.1:p.Val1217=