Canonical Allele Identifier: CA2470918770

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706093G= , CM000686.2:g.19706093G=	GRCh38
NC_000024.9:g.21867979G= , CM000686.1:g.21867979G=	GRCh37
NC_000024.8:g.20327367G=	NCBI36
NG_032920.1:g.43847C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4522C= MANE Select	ENSP00000322408.4:p.Gln1508=
ENST00000317961.8:c.4522C=	ENSP00000322408.4:p.Gln1508=
ENST00000382806.6:c.4351C=	ENSP00000372256.2:p.Gln1451=
ENST00000440077.5:c.4399C=	ENSP00000398543.1:p.Gln1467=
ENST00000469599.6:n.3273C=
ENST00000492117.1:n.4567C=
ENST00000541639.5:c.4615C=	ENSP00000444293.1:p.Gln1539=
NM_001146705.1:c.4615C=	NP_001140177.1:p.Gln1539=
NM_001146706.1:c.4351C=	NP_001140178.1:p.Gln1451=
NM_004653.4:c.4522C=	NP_004644.2:p.Gln1508=
XM_005262560.1:c.4387C=	XP_005262617.1:p.Gln1463=
XM_005262561.1:c.4291C=	XP_005262618.1:p.Gln1431=
XM_011531468.1:c.4444C=	XP_011529770.1:p.Gln1482=
XR_430568.2:n.5297C=
XM_005262560.3:c.4387C=	XP_005262617.1:p.Gln1463=
XM_005262561.3:c.4291C=	XP_005262618.1:p.Gln1431=
XM_011531468.3:c.4444C=	XP_011529770.1:p.Gln1482=
XM_024452495.1:c.2512C=	XP_024308263.1:p.Gln838=
XM_024452496.1:c.2278C=	XP_024308264.1:p.Gln760=
XR_001756009.2:n.5260C=
XR_001756010.2:n.5228C=
XR_001756011.2:n.5125C=
XR_001756012.2:n.5273C=
XR_001756013.2:n.4591C=
XR_002958832.1:n.4845C=
XR_002958834.1:n.4916C=
XR_002958835.1:n.4799C=
XR_002958836.1:n.5450C=
XR_002958837.1:n.5257C=
XR_244571.4:n.4777C=
XR_430568.4:n.5296C=
NM_001146706.2:c.4351C=	NP_001140178.1:p.Gln1451=
NM_004653.5:c.4522C= MANE Select	NP_004644.2:p.Gln1508=
NM_001146705.2:c.4615C=	NP_001140177.1:p.Gln1539=