Canonical Allele Identifier: CA414844258

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869828C>A (hg19) ; chrY:g.19707942C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707942C>A , CM000686.2:g.19707942C>A	GRCh38
NC_000024.9:g.21869828C>A , CM000686.1:g.21869828C>A	GRCh37
NC_000024.8:g.20329216C>A	NCBI36
NG_032920.1:g.41998G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000317961.9:c.3391G>T MANE Select	ENSP00000322408.4:p.Gly1131Cys
ENST00000317961.8:c.3391G>T	ENSP00000322408.4:p.Gly1131Cys
ENST00000382806.6:c.3220G>T	ENSP00000372256.2:p.Gly1074Cys
ENST00000415360.1:c.307G>T	ENSP00000389433.1:p.Gly103Cys
ENST00000440077.5:c.3268G>T	ENSP00000398543.1:p.Gly1090Cys
ENST00000469599.6:n.1989G>T
ENST00000492117.1:n.3283G>T
ENST00000541639.5:c.3484G>T	ENSP00000444293.1:p.Gly1162Cys
NM_001146705.1:c.3484G>T	NP_001140177.1:p.Gly1162Cys
NM_001146706.1:c.3220G>T	NP_001140178.1:p.Gly1074Cys
NM_004653.4:c.3391G>T	NP_004644.2:p.Gly1131Cys
XM_005262560.1:c.3256G>T	XP_005262617.1:p.Gly1086Cys
XM_005262561.1:c.3160G>T	XP_005262618.1:p.Gly1054Cys
XM_011531468.1:c.3313G>T	XP_011529770.1:p.Gly1105Cys
XR_244571.2:n.3679G>T
XR_430568.2:n.4013G>T
XM_005262560.3:c.3256G>T	XP_005262617.1:p.Gly1086Cys
XM_005262561.3:c.3160G>T	XP_005262618.1:p.Gly1054Cys
XM_011531468.3:c.3313G>T	XP_011529770.1:p.Gly1105Cys
XM_024452495.1:c.1381G>T	XP_024308263.1:p.Gly461Cys
XM_024452496.1:c.1147G>T	XP_024308264.1:p.Gly383Cys
XR_001756009.2:n.4129G>T
XR_001756010.2:n.4129G>T
XR_001756011.2:n.3994G>T
XR_001756012.2:n.4142G>T
XR_001756013.2:n.3460G>T
XR_002958832.1:n.3561G>T
XR_002958834.1:n.3785G>T
XR_002958835.1:n.3668G>T
XR_002958836.1:n.4351G>T
XR_002958837.1:n.4158G>T
XR_244571.4:n.3678G>T
XR_430568.4:n.4012G>T
NM_001146706.2:c.3220G>T	NP_001140178.1:p.Gly1074Cys
NM_004653.5:c.3391G>T MANE Select	NP_004644.2:p.Gly1131Cys
NM_001146705.2:c.3484G>T	NP_001140177.1:p.Gly1162Cys