Canonical Allele Identifier: CA414840439

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868062T>A (hg19) ; chrY:g.19706176T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706176T>A , CM000686.2:g.19706176T>A	GRCh38
NC_000024.9:g.21868062T>A , CM000686.1:g.21868062T>A	GRCh37
NC_000024.8:g.20327450T>A	NCBI36
NG_032920.1:g.43764A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4439A>T MANE Select	ENSP00000322408.4:p.Glu1480Val
ENST00000317961.8:c.4439A>T	ENSP00000322408.4:p.Glu1480Val
ENST00000382806.6:c.4268A>T	ENSP00000372256.2:p.Glu1423Val
ENST00000440077.5:c.4316A>T	ENSP00000398543.1:p.Glu1439Val
ENST00000469599.6:n.3190A>T
ENST00000492117.1:n.4484A>T
ENST00000541639.5:c.4532A>T	ENSP00000444293.1:p.Glu1511Val
NM_001146705.1:c.4532A>T	NP_001140177.1:p.Glu1511Val
NM_001146706.1:c.4268A>T	NP_001140178.1:p.Glu1423Val
NM_004653.4:c.4439A>T	NP_004644.2:p.Glu1480Val
XM_005262560.1:c.4304A>T	XP_005262617.1:p.Glu1435Val
XM_005262561.1:c.4208A>T	XP_005262618.1:p.Glu1403Val
XM_011531468.1:c.4361A>T	XP_011529770.1:p.Glu1454Val
XR_430568.2:n.5214A>T
XM_005262560.3:c.4304A>T	XP_005262617.1:p.Glu1435Val
XM_005262561.3:c.4208A>T	XP_005262618.1:p.Glu1403Val
XM_011531468.3:c.4361A>T	XP_011529770.1:p.Glu1454Val
XM_024452495.1:c.2429A>T	XP_024308263.1:p.Glu810Val
XM_024452496.1:c.2195A>T	XP_024308264.1:p.Glu732Val
XR_001756009.2:n.5177A>T
XR_001756010.2:n.5145A>T
XR_001756011.2:n.5042A>T
XR_001756012.2:n.5190A>T
XR_001756013.2:n.4508A>T
XR_002958832.1:n.4762A>T
XR_002958834.1:n.4833A>T
XR_002958835.1:n.4716A>T
XR_002958836.1:n.5367A>T
XR_002958837.1:n.5174A>T
XR_244571.4:n.4694A>T
XR_430568.4:n.5213A>T
NM_001146706.2:c.4268A>T	NP_001140178.1:p.Glu1423Val
NM_004653.5:c.4439A>T MANE Select	NP_004644.2:p.Glu1480Val
NM_001146705.2:c.4532A>T	NP_001140177.1:p.Glu1511Val