Canonical Allele Identifier: CA3008521064

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707078T>G , CM000686.2:g.19707078T>G	GRCh38
NC_000024.9:g.21868964T>G , CM000686.1:g.21868964T>G	GRCh37
NC_000024.8:g.20328352T>G	NCBI36
NG_032920.1:g.42862A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004653.5:c.3999+69A>C MANE Select	NP_004644.2:n.3999+69A>C
ENST00000317961.9:c.3999+69A>C MANE Select	ENSP00000322408.4:n.3999+69A>C
NM_001146705.1:c.4092+69A>C	NP_001140177.1:n.4092+69A>C
NM_001146705.2:c.4092+69A>C	NP_001140177.1:n.4092+69A>C
NM_001146706.1:c.3828+69A>C	NP_001140178.1:n.3828+69A>C
NM_001146706.2:c.3828+69A>C	NP_001140178.1:n.3828+69A>C
NM_004653.4:c.3999+69A>C	NP_004644.2:n.3999+69A>C
ENST00000317961.8:c.3999+69A>C	ENSP00000322408.4:n.3999+69A>C
ENST00000382806.6:c.3828+69A>C	ENSP00000372256.2:n.3828+69A>C
ENST00000440077.5:c.3876+69A>C	ENSP00000398543.1:n.3876+69A>C
ENST00000469599.6:n.2597+69A>C
ENST00000492117.1:n.3891+69A>C
ENST00000541639.5:c.4092+69A>C	ENSP00000444293.1:n.4092+69A>C
XM_005262560.1:c.3864+69A>C	XP_005262617.1:n.3864+69A>C
XM_005262560.3:c.3864+69A>C	XP_005262617.1:n.3864+69A>C
XM_005262561.1:c.3768+69A>C	XP_005262618.1:n.3768+69A>C
XM_005262561.3:c.3768+69A>C	XP_005262618.1:n.3768+69A>C
XM_011531468.1:c.3921+69A>C	XP_011529770.1:n.3921+69A>C
XM_011531468.3:c.3921+69A>C	XP_011529770.1:n.3921+69A>C
XM_024452495.1:c.1989+69A>C	XP_024308263.1:n.1989+69A>C
XM_024452496.1:c.1755+69A>C	XP_024308264.1:n.1755+69A>C
XR_001756009.2:n.4737+69A>C
XR_001756010.2:n.4737+69A>C
XR_001756011.2:n.4602+69A>C
XR_001756012.2:n.4750+69A>C
XR_001756013.2:n.4068+69A>C
XR_002958832.1:n.4169+69A>C
XR_002958834.1:n.4393+69A>C
XR_002958835.1:n.4276+69A>C
XR_002958836.1:n.4959+69A>C
XR_002958837.1:n.4766+69A>C
XR_244571.2:n.4287+69A>C
XR_244571.4:n.4286+69A>C
XR_430568.2:n.4621+69A>C
XR_430568.4:n.4620+69A>C