Canonical Allele Identifier: CA414840436

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868061T>A (hg19) ; chrY:g.19706175T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706175T>A , CM000686.2:g.19706175T>A	GRCh38
NC_000024.9:g.21868061T>A , CM000686.1:g.21868061T>A	GRCh37
NC_000024.8:g.20327449T>A	NCBI36
NG_032920.1:g.43765A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4440A>T MANE Select	ENSP00000322408.4:p.Glu1480Asp
ENST00000317961.8:c.4440A>T	ENSP00000322408.4:p.Glu1480Asp
ENST00000382806.6:c.4269A>T	ENSP00000372256.2:p.Glu1423Asp
ENST00000440077.5:c.4317A>T	ENSP00000398543.1:p.Glu1439Asp
ENST00000469599.6:n.3191A>T
ENST00000492117.1:n.4485A>T
ENST00000541639.5:c.4533A>T	ENSP00000444293.1:p.Glu1511Asp
NM_001146705.1:c.4533A>T	NP_001140177.1:p.Glu1511Asp
NM_001146706.1:c.4269A>T	NP_001140178.1:p.Glu1423Asp
NM_004653.4:c.4440A>T	NP_004644.2:p.Glu1480Asp
XM_005262560.1:c.4305A>T	XP_005262617.1:p.Glu1435Asp
XM_005262561.1:c.4209A>T	XP_005262618.1:p.Glu1403Asp
XM_011531468.1:c.4362A>T	XP_011529770.1:p.Glu1454Asp
XR_430568.2:n.5215A>T
XM_005262560.3:c.4305A>T	XP_005262617.1:p.Glu1435Asp
XM_005262561.3:c.4209A>T	XP_005262618.1:p.Glu1403Asp
XM_011531468.3:c.4362A>T	XP_011529770.1:p.Glu1454Asp
XM_024452495.1:c.2430A>T	XP_024308263.1:p.Glu810Asp
XM_024452496.1:c.2196A>T	XP_024308264.1:p.Glu732Asp
XR_001756009.2:n.5178A>T
XR_001756010.2:n.5146A>T
XR_001756011.2:n.5043A>T
XR_001756012.2:n.5191A>T
XR_001756013.2:n.4509A>T
XR_002958832.1:n.4763A>T
XR_002958834.1:n.4834A>T
XR_002958835.1:n.4717A>T
XR_002958836.1:n.5368A>T
XR_002958837.1:n.5175A>T
XR_244571.4:n.4695A>T
XR_430568.4:n.5214A>T
NM_001146706.2:c.4269A>T	NP_001140178.1:p.Glu1423Asp
NM_004653.5:c.4440A>T MANE Select	NP_004644.2:p.Glu1480Asp
NM_001146705.2:c.4533A>T	NP_001140177.1:p.Glu1511Asp