Canonical Allele Identifier: CA923730902

Gene: KDM5D

Linked Data

• dbSNP Id: rs2045297055
• gnomAD v3: Y-19711359-G-GA
• gnomAD v4: Y-19711359-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19711365dup , CM000686.2:g.19711365dup	GRCh38
NC_000024.9:g.21873251dup , CM000686.1:g.21873251dup	GRCh37
NC_000024.8:g.20332639dup	NCBI36
NG_032920.1:g.38580dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000317961.9:c.2487-888dup MANE Select	ENSP00000322408.4:n.2487-888dup
ENST00000317961.8:c.2487-888dup	ENSP00000322408.4:n.2487-888dup
ENST00000382806.6:c.2316-888dup	ENSP00000372256.2:n.2316-888dup
ENST00000440077.5:c.2364-888dup	ENSP00000398543.1:n.2364-888dup
ENST00000469599.6:n.634-888dup
ENST00000492117.1:n.2379-888dup
ENST00000541639.5:c.2580-888dup	ENSP00000444293.1:n.2580-888dup
NM_001146705.1:c.2580-888dup	NP_001140177.1:n.2580-888dup
NM_001146706.1:c.2316-888dup	NP_001140178.1:n.2316-888dup
NM_004653.4:c.2487-888dup	NP_004644.2:n.2487-888dup
XM_005262560.1:c.2352-888dup	XP_005262617.1:n.2352-888dup
XM_005262561.1:c.2487-888dup	XP_005262618.1:n.2487-888dup
XM_005262562.2:c.2487-888dup	XP_005262619.1:n.2487-888dup
XM_011531468.1:c.2487-888dup	XP_011529770.1:n.2487-888dup
XR_244571.2:n.2775-888dup
XR_430568.2:n.2658-888dup
XR_938609.1:n.2627-888dup
XR_938610.1:n.2627-888dup
XM_005262560.3:c.2352-888dup	XP_005262617.1:n.2352-888dup
XM_005262561.3:c.2487-888dup	XP_005262618.1:n.2487-888dup
XM_011531468.3:c.2487-888dup	XP_011529770.1:n.2487-888dup
XM_024452495.1:c.477-888dup	XP_024308263.1:n.477-888dup
XM_024452496.1:c.243-888dup	XP_024308264.1:n.243-888dup
XR_001756009.2:n.2774-888dup
XR_001756010.2:n.2774-888dup
XR_001756011.2:n.2639-888dup
XR_001756012.2:n.2787-888dup
XR_001756013.2:n.2787-888dup
XR_002958832.1:n.2657-888dup
XR_002958833.1:n.2787-888dup
XR_002958834.1:n.2881-888dup
XR_002958835.1:n.2764-888dup
XR_002958836.1:n.2881-888dup
XR_002958837.1:n.2881-888dup
XR_244571.4:n.2774-888dup
XR_430568.4:n.2657-888dup
NM_001146706.2:c.2316-888dup	NP_001140178.1:n.2316-888dup
NM_004653.5:c.2487-888dup MANE Select	NP_004644.2:n.2487-888dup
NM_001146705.2:c.2580-888dup	NP_001140177.1:n.2580-888dup