Canonical Allele Identifier: CA414840412

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868057G>C (hg19) ; chrY:g.19706171G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706171G>C , CM000686.2:g.19706171G>C	GRCh38
NC_000024.9:g.21868057G>C , CM000686.1:g.21868057G>C	GRCh37
NC_000024.8:g.20327445G>C	NCBI36
NG_032920.1:g.43769C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4444C>G MANE Select	ENSP00000322408.4:p.His1482Asp
ENST00000317961.8:c.4444C>G	ENSP00000322408.4:p.His1482Asp
ENST00000382806.6:c.4273C>G	ENSP00000372256.2:p.His1425Asp
ENST00000440077.5:c.4321C>G	ENSP00000398543.1:p.His1441Asp
ENST00000469599.6:n.3195C>G
ENST00000492117.1:n.4489C>G
ENST00000541639.5:c.4537C>G	ENSP00000444293.1:p.His1513Asp
NM_001146705.1:c.4537C>G	NP_001140177.1:p.His1513Asp
NM_001146706.1:c.4273C>G	NP_001140178.1:p.His1425Asp
NM_004653.4:c.4444C>G	NP_004644.2:p.His1482Asp
XM_005262560.1:c.4309C>G	XP_005262617.1:p.His1437Asp
XM_005262561.1:c.4213C>G	XP_005262618.1:p.His1405Asp
XM_011531468.1:c.4366C>G	XP_011529770.1:p.His1456Asp
XR_430568.2:n.5219C>G
XM_005262560.3:c.4309C>G	XP_005262617.1:p.His1437Asp
XM_005262561.3:c.4213C>G	XP_005262618.1:p.His1405Asp
XM_011531468.3:c.4366C>G	XP_011529770.1:p.His1456Asp
XM_024452495.1:c.2434C>G	XP_024308263.1:p.His812Asp
XM_024452496.1:c.2200C>G	XP_024308264.1:p.His734Asp
XR_001756009.2:n.5182C>G
XR_001756010.2:n.5150C>G
XR_001756011.2:n.5047C>G
XR_001756012.2:n.5195C>G
XR_001756013.2:n.4513C>G
XR_002958832.1:n.4767C>G
XR_002958834.1:n.4838C>G
XR_002958835.1:n.4721C>G
XR_002958836.1:n.5372C>G
XR_002958837.1:n.5179C>G
XR_244571.4:n.4699C>G
XR_430568.4:n.5218C>G
NM_001146706.2:c.4273C>G	NP_001140178.1:p.His1425Asp
NM_004653.5:c.4444C>G MANE Select	NP_004644.2:p.His1482Asp
NM_001146705.2:c.4537C>G	NP_001140177.1:p.His1513Asp