Canonical Allele Identifier: CA414840310

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868032T>A (hg19) ; chrY:g.19706146T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706146T>A , CM000686.2:g.19706146T>A	GRCh38
NC_000024.9:g.21868032T>A , CM000686.1:g.21868032T>A	GRCh37
NC_000024.8:g.20327420T>A	NCBI36
NG_032920.1:g.43794A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4469A>T MANE Select	ENSP00000322408.4:p.Glu1490Val
ENST00000317961.8:c.4469A>T	ENSP00000322408.4:p.Glu1490Val
ENST00000382806.6:c.4298A>T	ENSP00000372256.2:p.Glu1433Val
ENST00000440077.5:c.4346A>T	ENSP00000398543.1:p.Glu1449Val
ENST00000469599.6:n.3220A>T
ENST00000492117.1:n.4514A>T
ENST00000541639.5:c.4562A>T	ENSP00000444293.1:p.Glu1521Val
NM_001146705.1:c.4562A>T	NP_001140177.1:p.Glu1521Val
NM_001146706.1:c.4298A>T	NP_001140178.1:p.Glu1433Val
NM_004653.4:c.4469A>T	NP_004644.2:p.Glu1490Val
XM_005262560.1:c.4334A>T	XP_005262617.1:p.Glu1445Val
XM_005262561.1:c.4238A>T	XP_005262618.1:p.Glu1413Val
XM_011531468.1:c.4391A>T	XP_011529770.1:p.Glu1464Val
XR_430568.2:n.5244A>T
XM_005262560.3:c.4334A>T	XP_005262617.1:p.Glu1445Val
XM_005262561.3:c.4238A>T	XP_005262618.1:p.Glu1413Val
XM_011531468.3:c.4391A>T	XP_011529770.1:p.Glu1464Val
XM_024452495.1:c.2459A>T	XP_024308263.1:p.Glu820Val
XM_024452496.1:c.2225A>T	XP_024308264.1:p.Glu742Val
XR_001756009.2:n.5207A>T
XR_001756010.2:n.5175A>T
XR_001756011.2:n.5072A>T
XR_001756012.2:n.5220A>T
XR_001756013.2:n.4538A>T
XR_002958832.1:n.4792A>T
XR_002958834.1:n.4863A>T
XR_002958835.1:n.4746A>T
XR_002958836.1:n.5397A>T
XR_002958837.1:n.5204A>T
XR_244571.4:n.4724A>T
XR_430568.4:n.5243A>T
NM_001146706.2:c.4298A>T	NP_001140178.1:p.Glu1433Val
NM_004653.5:c.4469A>T MANE Select	NP_004644.2:p.Glu1490Val
NM_001146705.2:c.4562A>T	NP_001140177.1:p.Glu1521Val