Canonical Allele Identifier: CA414840028

Gene: KDM5D

Linked Data

• gnomAD v3: Y-19706076-G-C
• gnomAD v4: Y-19706076-G-C
• MyVariant Identifiers: chrY:g.21867962G>C (hg19) ; chrY:g.19706076G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706076G>C , CM000686.2:g.19706076G>C	GRCh38
NC_000024.9:g.21867962G>C , CM000686.1:g.21867962G>C	GRCh37
NC_000024.8:g.20327350G>C	NCBI36
NG_032920.1:g.43864C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4539C>G MANE Select	ENSP00000322408.4:p.His1513Gln
ENST00000317961.8:c.4539C>G	ENSP00000322408.4:p.His1513Gln
ENST00000382806.6:c.4368C>G	ENSP00000372256.2:p.His1456Gln
ENST00000440077.5:c.4416C>G	ENSP00000398543.1:p.His1472Gln
ENST00000469599.6:n.3290C>G
ENST00000492117.1:n.4584C>G
ENST00000541639.5:c.4632C>G	ENSP00000444293.1:p.His1544Gln
NM_001146705.1:c.4632C>G	NP_001140177.1:p.His1544Gln
NM_001146706.1:c.4368C>G	NP_001140178.1:p.His1456Gln
NM_004653.4:c.4539C>G	NP_004644.2:p.His1513Gln
XM_005262560.1:c.4404C>G	XP_005262617.1:p.His1468Gln
XM_005262561.1:c.4308C>G	XP_005262618.1:p.His1436Gln
XM_011531468.1:c.4461C>G	XP_011529770.1:p.His1487Gln
XR_430568.2:n.5314C>G
XM_005262560.3:c.4404C>G	XP_005262617.1:p.His1468Gln
XM_005262561.3:c.4308C>G	XP_005262618.1:p.His1436Gln
XM_011531468.3:c.4461C>G	XP_011529770.1:p.His1487Gln
XM_024452495.1:c.2529C>G	XP_024308263.1:p.His843Gln
XM_024452496.1:c.2295C>G	XP_024308264.1:p.His765Gln
XR_001756009.2:n.5277C>G
XR_001756010.2:n.5245C>G
XR_001756011.2:n.5142C>G
XR_001756012.2:n.5290C>G
XR_001756013.2:n.4608C>G
XR_002958832.1:n.4862C>G
XR_002958834.1:n.4933C>G
XR_002958835.1:n.4816C>G
XR_002958836.1:n.5467C>G
XR_002958837.1:n.5274C>G
XR_244571.4:n.4794C>G
XR_430568.4:n.5313C>G
NM_001146706.2:c.4368C>G	NP_001140178.1:p.His1456Gln
NM_004653.5:c.4539C>G MANE Select	NP_004644.2:p.His1513Gln
NM_001146705.2:c.4632C>G	NP_001140177.1:p.His1544Gln