Canonical Allele Identifier: CA2470918966

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707628G= , CM000686.2:g.19707628G=	GRCh38
NC_000024.9:g.21869514G= , CM000686.1:g.21869514G=	GRCh37
NC_000024.8:g.20328902G=	NCBI36
NG_032920.1:g.42312C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3518C= MANE Select	ENSP00000322408.4:p.Ser1173=
ENST00000317961.8:c.3518C=	ENSP00000322408.4:p.Ser1173=
ENST00000382806.6:c.3347C=	ENSP00000372256.2:p.Ser1116=
ENST00000415360.1:c.434C=	ENSP00000389433.1:p.Ser145=
ENST00000440077.5:c.3395C=	ENSP00000398543.1:p.Ser1132=
ENST00000469599.6:n.2116C=
ENST00000492117.1:n.3410C=
ENST00000541639.5:c.3611C=	ENSP00000444293.1:p.Ser1204=
NM_001146705.1:c.3611C=	NP_001140177.1:p.Ser1204=
NM_001146706.1:c.3347C=	NP_001140178.1:p.Ser1116=
NM_004653.4:c.3518C=	NP_004644.2:p.Ser1173=
XM_005262560.1:c.3383C=	XP_005262617.1:p.Ser1128=
XM_005262561.1:c.3287C=	XP_005262618.1:p.Ser1096=
XM_011531468.1:c.3440C=	XP_011529770.1:p.Ser1147=
XR_244571.2:n.3806C=
XR_430568.2:n.4140C=
XM_005262560.3:c.3383C=	XP_005262617.1:p.Ser1128=
XM_005262561.3:c.3287C=	XP_005262618.1:p.Ser1096=
XM_011531468.3:c.3440C=	XP_011529770.1:p.Ser1147=
XM_024452495.1:c.1508C=	XP_024308263.1:p.Ser503=
XM_024452496.1:c.1274C=	XP_024308264.1:p.Ser425=
XR_001756009.2:n.4256C=
XR_001756010.2:n.4256C=
XR_001756011.2:n.4121C=
XR_001756012.2:n.4269C=
XR_001756013.2:n.3587C=
XR_002958832.1:n.3688C=
XR_002958834.1:n.3912C=
XR_002958835.1:n.3795C=
XR_002958836.1:n.4478C=
XR_002958837.1:n.4285C=
XR_244571.4:n.3805C=
XR_430568.4:n.4139C=
NM_001146706.2:c.3347C=	NP_001140178.1:p.Ser1116=
NM_004653.5:c.3518C= MANE Select	NP_004644.2:p.Ser1173=
NM_001146705.2:c.3611C=	NP_001140177.1:p.Ser1204=