Canonical Allele Identifier: CA414840427

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868060C>A (hg19) ; chrY:g.19706174C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706174C>A , CM000686.2:g.19706174C>A	GRCh38
NC_000024.9:g.21868060C>A , CM000686.1:g.21868060C>A	GRCh37
NC_000024.8:g.20327448C>A	NCBI36
NG_032920.1:g.43766G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4441G>T MANE Select	ENSP00000322408.4:p.Glu1481Ter
ENST00000317961.8:c.4441G>T	ENSP00000322408.4:p.Glu1481Ter
ENST00000382806.6:c.4270G>T	ENSP00000372256.2:p.Glu1424Ter
ENST00000440077.5:c.4318G>T	ENSP00000398543.1:p.Glu1440Ter
ENST00000469599.6:n.3192G>T
ENST00000492117.1:n.4486G>T
ENST00000541639.5:c.4534G>T	ENSP00000444293.1:p.Glu1512Ter
NM_001146705.1:c.4534G>T	NP_001140177.1:p.Glu1512Ter
NM_001146706.1:c.4270G>T	NP_001140178.1:p.Glu1424Ter
NM_004653.4:c.4441G>T	NP_004644.2:p.Glu1481Ter
XM_005262560.1:c.4306G>T	XP_005262617.1:p.Glu1436Ter
XM_005262561.1:c.4210G>T	XP_005262618.1:p.Glu1404Ter
XM_011531468.1:c.4363G>T	XP_011529770.1:p.Glu1455Ter
XR_430568.2:n.5216G>T
XM_005262560.3:c.4306G>T	XP_005262617.1:p.Glu1436Ter
XM_005262561.3:c.4210G>T	XP_005262618.1:p.Glu1404Ter
XM_011531468.3:c.4363G>T	XP_011529770.1:p.Glu1455Ter
XM_024452495.1:c.2431G>T	XP_024308263.1:p.Glu811Ter
XM_024452496.1:c.2197G>T	XP_024308264.1:p.Glu733Ter
XR_001756009.2:n.5179G>T
XR_001756010.2:n.5147G>T
XR_001756011.2:n.5044G>T
XR_001756012.2:n.5192G>T
XR_001756013.2:n.4510G>T
XR_002958832.1:n.4764G>T
XR_002958834.1:n.4835G>T
XR_002958835.1:n.4718G>T
XR_002958836.1:n.5369G>T
XR_002958837.1:n.5176G>T
XR_244571.4:n.4696G>T
XR_430568.4:n.5215G>T
NM_001146706.2:c.4270G>T	NP_001140178.1:p.Glu1424Ter
NM_004653.5:c.4441G>T MANE Select	NP_004644.2:p.Glu1481Ter
NM_001146705.2:c.4534G>T	NP_001140177.1:p.Glu1512Ter