Canonical Allele Identifier: CA414841949

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868705C>A (hg19) ; chrY:g.19706819C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706819C>A , CM000686.2:g.19706819C>A	GRCh38
NC_000024.9:g.21868705C>A , CM000686.1:g.21868705C>A	GRCh37
NC_000024.8:g.20328093C>A	NCBI36
NG_032920.1:g.43121G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4044G>T MANE Select	ENSP00000322408.4:p.Glu1348Asp
ENST00000317961.8:c.4044G>T	ENSP00000322408.4:p.Glu1348Asp
ENST00000382806.6:c.3873G>T	ENSP00000372256.2:p.Glu1291Asp
ENST00000440077.5:c.3921G>T	ENSP00000398543.1:p.Glu1307Asp
ENST00000469599.6:n.2642G>T
ENST00000492117.1:n.3936G>T
ENST00000541639.5:c.4137G>T	ENSP00000444293.1:p.Glu1379Asp
NM_001146705.1:c.4137G>T	NP_001140177.1:p.Glu1379Asp
NM_001146706.1:c.3873G>T	NP_001140178.1:p.Glu1291Asp
NM_004653.4:c.4044G>T	NP_004644.2:p.Glu1348Asp
XM_005262560.1:c.3909G>T	XP_005262617.1:p.Glu1303Asp
XM_005262561.1:c.3813G>T	XP_005262618.1:p.Glu1271Asp
XM_011531468.1:c.3966G>T	XP_011529770.1:p.Glu1322Asp
XR_244571.2:n.4332G>T
XR_430568.2:n.4666G>T
XM_005262560.3:c.3909G>T	XP_005262617.1:p.Glu1303Asp
XM_005262561.3:c.3813G>T	XP_005262618.1:p.Glu1271Asp
XM_011531468.3:c.3966G>T	XP_011529770.1:p.Glu1322Asp
XM_024452495.1:c.2034G>T	XP_024308263.1:p.Glu678Asp
XM_024452496.1:c.1800G>T	XP_024308264.1:p.Glu600Asp
XR_001756009.2:n.4782G>T
XR_001756010.2:n.4782G>T
XR_001756011.2:n.4647G>T
XR_001756012.2:n.4795G>T
XR_001756013.2:n.4113G>T
XR_002958832.1:n.4214G>T
XR_002958834.1:n.4438G>T
XR_002958835.1:n.4321G>T
XR_002958836.1:n.5004G>T
XR_002958837.1:n.4811G>T
XR_244571.4:n.4331G>T
XR_430568.4:n.4665G>T
NM_001146706.2:c.3873G>T	NP_001140178.1:p.Glu1291Asp
NM_004653.5:c.4044G>T MANE Select	NP_004644.2:p.Glu1348Asp
NM_001146705.2:c.4137G>T	NP_001140177.1:p.Glu1379Asp