Canonical Allele Identifier: CA414840367

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868047T>A (hg19) ; chrY:g.19706161T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706161T>A , CM000686.2:g.19706161T>A	GRCh38
NC_000024.9:g.21868047T>A , CM000686.1:g.21868047T>A	GRCh37
NC_000024.8:g.20327435T>A	NCBI36
NG_032920.1:g.43779A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4454A>T MANE Select	ENSP00000322408.4:p.Glu1485Val
ENST00000317961.8:c.4454A>T	ENSP00000322408.4:p.Glu1485Val
ENST00000382806.6:c.4283A>T	ENSP00000372256.2:p.Glu1428Val
ENST00000440077.5:c.4331A>T	ENSP00000398543.1:p.Glu1444Val
ENST00000469599.6:n.3205A>T
ENST00000492117.1:n.4499A>T
ENST00000541639.5:c.4547A>T	ENSP00000444293.1:p.Glu1516Val
NM_001146705.1:c.4547A>T	NP_001140177.1:p.Glu1516Val
NM_001146706.1:c.4283A>T	NP_001140178.1:p.Glu1428Val
NM_004653.4:c.4454A>T	NP_004644.2:p.Glu1485Val
XM_005262560.1:c.4319A>T	XP_005262617.1:p.Glu1440Val
XM_005262561.1:c.4223A>T	XP_005262618.1:p.Glu1408Val
XM_011531468.1:c.4376A>T	XP_011529770.1:p.Glu1459Val
XR_430568.2:n.5229A>T
XM_005262560.3:c.4319A>T	XP_005262617.1:p.Glu1440Val
XM_005262561.3:c.4223A>T	XP_005262618.1:p.Glu1408Val
XM_011531468.3:c.4376A>T	XP_011529770.1:p.Glu1459Val
XM_024452495.1:c.2444A>T	XP_024308263.1:p.Glu815Val
XM_024452496.1:c.2210A>T	XP_024308264.1:p.Glu737Val
XR_001756009.2:n.5192A>T
XR_001756010.2:n.5160A>T
XR_001756011.2:n.5057A>T
XR_001756012.2:n.5205A>T
XR_001756013.2:n.4523A>T
XR_002958832.1:n.4777A>T
XR_002958834.1:n.4848A>T
XR_002958835.1:n.4731A>T
XR_002958836.1:n.5382A>T
XR_002958837.1:n.5189A>T
XR_244571.4:n.4709A>T
XR_430568.4:n.5228A>T
NM_001146706.2:c.4283A>T	NP_001140178.1:p.Glu1428Val
NM_004653.5:c.4454A>T MANE Select	NP_004644.2:p.Glu1485Val
NM_001146705.2:c.4547A>T	NP_001140177.1:p.Glu1516Val