Canonical Allele Identifier: CA10574665

Gene: KDM5D

Linked Data

• dbSNP Id: rs767405452
• ExAC: Y:21868056 T / C
• gnomAD v2: Y-21868056-T-C
• gnomAD v3: Y-19706170-T-C
• gnomAD v4: Y-19706170-T-C
• MyVariant Identifiers: chrY:g.21868056T>C (hg19) ; chrY:g.19706170T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706170T>C , CM000686.2:g.19706170T>C	GRCh38
NC_000024.9:g.21868056T>C , CM000686.1:g.21868056T>C	GRCh37
NC_000024.8:g.20327444T>C	NCBI36
NG_032920.1:g.43770A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4445A>G MANE Select	ENSP00000322408.4:p.His1482Arg
ENST00000317961.8:c.4445A>G	ENSP00000322408.4:p.His1482Arg
ENST00000382806.6:c.4274A>G	ENSP00000372256.2:p.His1425Arg
ENST00000440077.5:c.4322A>G	ENSP00000398543.1:p.His1441Arg
ENST00000469599.6:n.3196A>G
ENST00000492117.1:n.4490A>G
ENST00000541639.5:c.4538A>G	ENSP00000444293.1:p.His1513Arg
NM_001146705.1:c.4538A>G	NP_001140177.1:p.His1513Arg
NM_001146706.1:c.4274A>G	NP_001140178.1:p.His1425Arg
NM_004653.4:c.4445A>G	NP_004644.2:p.His1482Arg
XM_005262560.1:c.4310A>G	XP_005262617.1:p.His1437Arg
XM_005262561.1:c.4214A>G	XP_005262618.1:p.His1405Arg
XM_011531468.1:c.4367A>G	XP_011529770.1:p.His1456Arg
XR_430568.2:n.5220A>G
XM_005262560.3:c.4310A>G	XP_005262617.1:p.His1437Arg
XM_005262561.3:c.4214A>G	XP_005262618.1:p.His1405Arg
XM_011531468.3:c.4367A>G	XP_011529770.1:p.His1456Arg
XM_024452495.1:c.2435A>G	XP_024308263.1:p.His812Arg
XM_024452496.1:c.2201A>G	XP_024308264.1:p.His734Arg
XR_001756009.2:n.5183A>G
XR_001756010.2:n.5151A>G
XR_001756011.2:n.5048A>G
XR_001756012.2:n.5196A>G
XR_001756013.2:n.4514A>G
XR_002958832.1:n.4768A>G
XR_002958834.1:n.4839A>G
XR_002958835.1:n.4722A>G
XR_002958836.1:n.5373A>G
XR_002958837.1:n.5180A>G
XR_244571.4:n.4700A>G
XR_430568.4:n.5219A>G
NM_001146706.2:c.4274A>G	NP_001140178.1:p.His1425Arg
NM_004653.5:c.4445A>G MANE Select	NP_004644.2:p.His1482Arg
NM_001146705.2:c.4538A>G	NP_001140177.1:p.His1513Arg