Canonical Allele Identifier: CA414842032

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21894585T>A (hg19) ; chrY:g.19732699T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19732699T>A , CM000686.2:g.19732699T>A	GRCh38
NC_000024.9:g.21894585T>A , CM000686.1:g.21894585T>A	GRCh37
NC_000024.8:g.20353973T>A	NCBI36
NG_032920.1:g.17241A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.977A>T MANE Select	ENSP00000322408.4:p.Asp326Val
ENST00000317961.8:c.977A>T	ENSP00000322408.4:p.Asp326Val
ENST00000382806.6:c.806A>T	ENSP00000372256.2:p.Asp269Val
ENST00000440077.5:c.854A>T	ENSP00000398543.1:p.Asp285Val
ENST00000447300.1:c.842A>T	ENSP00000416377.1:p.Asp281Val
ENST00000541639.5:c.977A>T	ENSP00000444293.1:p.Asp326Val
NM_001146705.1:c.977A>T	NP_001140177.1:p.Asp326Val
NM_001146706.1:c.806A>T	NP_001140178.1:p.Asp269Val
NM_004653.4:c.977A>T	NP_004644.2:p.Asp326Val
XM_005262560.1:c.842A>T	XP_005262617.1:p.Asp281Val
XM_005262561.1:c.977A>T	XP_005262618.1:p.Asp326Val
XM_005262562.2:c.977A>T	XP_005262619.1:p.Asp326Val
XM_011531468.1:c.977A>T	XP_011529770.1:p.Asp326Val
XR_244571.2:n.1265A>T
XR_430568.2:n.1265A>T
XR_938609.1:n.1265A>T
XR_938610.1:n.1265A>T
XM_005262560.3:c.842A>T	XP_005262617.1:p.Asp281Val
XM_005262561.3:c.977A>T	XP_005262618.1:p.Asp326Val
XM_011531468.3:c.977A>T	XP_011529770.1:p.Asp326Val
XM_024452495.1:c.-1141A>T	XP_024308263.1:n.-1141A>T
XR_001756009.2:n.1264A>T
XR_001756010.2:n.1264A>T
XR_001756011.2:n.1129A>T
XR_001756012.2:n.1264A>T
XR_001756013.2:n.1264A>T
XR_002958832.1:n.1264A>T
XR_002958833.1:n.1264A>T
XR_002958834.1:n.1264A>T
XR_002958835.1:n.1264A>T
XR_002958836.1:n.1264A>T
XR_002958837.1:n.1264A>T
XR_244571.4:n.1264A>T
XR_430568.4:n.1264A>T
NM_001146706.2:c.806A>T	NP_001140178.1:p.Asp269Val
NM_004653.5:c.977A>T MANE Select	NP_004644.2:p.Asp326Val
NM_001146705.2:c.977A>T	NP_001140177.1:p.Asp326Val