Canonical Allele Identifier: CA414844514

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869899T>A (hg19) ; chrY:g.19708013T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708013T>A , CM000686.2:g.19708013T>A	GRCh38
NC_000024.9:g.21869899T>A , CM000686.1:g.21869899T>A	GRCh37
NC_000024.8:g.20329287T>A	NCBI36
NG_032920.1:g.41927A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3320A>T MANE Select	ENSP00000322408.4:p.Glu1107Val
ENST00000317961.8:c.3320A>T	ENSP00000322408.4:p.Glu1107Val
ENST00000382806.6:c.3149A>T	ENSP00000372256.2:p.Glu1050Val
ENST00000415360.1:c.236A>T	ENSP00000389433.1:p.Glu79Val
ENST00000440077.5:c.3197A>T	ENSP00000398543.1:p.Glu1066Val
ENST00000469599.6:n.1918A>T
ENST00000492117.1:n.3212A>T
ENST00000541639.5:c.3413A>T	ENSP00000444293.1:p.Glu1138Val
NM_001146705.1:c.3413A>T	NP_001140177.1:p.Glu1138Val
NM_001146706.1:c.3149A>T	NP_001140178.1:p.Glu1050Val
NM_004653.4:c.3320A>T	NP_004644.2:p.Glu1107Val
XM_005262560.1:c.3185A>T	XP_005262617.1:p.Glu1062Val
XM_005262561.1:c.3089A>T	XP_005262618.1:p.Glu1030Val
XM_011531468.1:c.3242A>T	XP_011529770.1:p.Glu1081Val
XR_244571.2:n.3608A>T
XR_430568.2:n.3942A>T
XM_005262560.3:c.3185A>T	XP_005262617.1:p.Glu1062Val
XM_005262561.3:c.3089A>T	XP_005262618.1:p.Glu1030Val
XM_011531468.3:c.3242A>T	XP_011529770.1:p.Glu1081Val
XM_024452495.1:c.1310A>T	XP_024308263.1:p.Glu437Val
XM_024452496.1:c.1076A>T	XP_024308264.1:p.Glu359Val
XR_001756009.2:n.4058A>T
XR_001756010.2:n.4058A>T
XR_001756011.2:n.3923A>T
XR_001756012.2:n.4071A>T
XR_001756013.2:n.3389A>T
XR_002958832.1:n.3490A>T
XR_002958834.1:n.3714A>T
XR_002958835.1:n.3597A>T
XR_002958836.1:n.4280A>T
XR_002958837.1:n.4087A>T
XR_244571.4:n.3607A>T
XR_430568.4:n.3941A>T
NM_001146706.2:c.3149A>T	NP_001140178.1:p.Glu1050Val
NM_004653.5:c.3320A>T MANE Select	NP_004644.2:p.Glu1107Val
NM_001146705.2:c.3413A>T	NP_001140177.1:p.Glu1138Val