Canonical Allele Identifier: CA414843144

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869326G>A (hg19) ; chrY:g.19707440G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707440G>A , CM000686.2:g.19707440G>A	GRCh38
NC_000024.9:g.21869326G>A , CM000686.1:g.21869326G>A	GRCh37
NC_000024.8:g.20328714G>A	NCBI36
NG_032920.1:g.42500C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3706C>T MANE Select	ENSP00000322408.4:p.Arg1236Cys
ENST00000317961.8:c.3706C>T	ENSP00000322408.4:p.Arg1236Cys
ENST00000382806.6:c.3535C>T	ENSP00000372256.2:p.Arg1179Cys
ENST00000415360.1:c.622C>T	ENSP00000389433.1:p.Arg208Cys
ENST00000440077.5:c.3583C>T	ENSP00000398543.1:p.Arg1195Cys
ENST00000469599.6:n.2304C>T
ENST00000492117.1:n.3598C>T
ENST00000541639.5:c.3799C>T	ENSP00000444293.1:p.Arg1267Cys
NM_001146705.1:c.3799C>T	NP_001140177.1:p.Arg1267Cys
NM_001146706.1:c.3535C>T	NP_001140178.1:p.Arg1179Cys
NM_004653.4:c.3706C>T	NP_004644.2:p.Arg1236Cys
XM_005262560.1:c.3571C>T	XP_005262617.1:p.Arg1191Cys
XM_005262561.1:c.3475C>T	XP_005262618.1:p.Arg1159Cys
XM_011531468.1:c.3628C>T	XP_011529770.1:p.Arg1210Cys
XR_244571.2:n.3994C>T
XR_430568.2:n.4328C>T
XM_005262560.3:c.3571C>T	XP_005262617.1:p.Arg1191Cys
XM_005262561.3:c.3475C>T	XP_005262618.1:p.Arg1159Cys
XM_011531468.3:c.3628C>T	XP_011529770.1:p.Arg1210Cys
XM_024452495.1:c.1696C>T	XP_024308263.1:p.Arg566Cys
XM_024452496.1:c.1462C>T	XP_024308264.1:p.Arg488Cys
XR_001756009.2:n.4444C>T
XR_001756010.2:n.4444C>T
XR_001756011.2:n.4309C>T
XR_001756012.2:n.4457C>T
XR_001756013.2:n.3775C>T
XR_002958832.1:n.3876C>T
XR_002958834.1:n.4100C>T
XR_002958835.1:n.3983C>T
XR_002958836.1:n.4666C>T
XR_002958837.1:n.4473C>T
XR_244571.4:n.3993C>T
XR_430568.4:n.4327C>T
NM_001146706.2:c.3535C>T	NP_001140178.1:p.Arg1179Cys
NM_004653.5:c.3706C>T MANE Select	NP_004644.2:p.Arg1236Cys
NM_001146705.2:c.3799C>T	NP_001140177.1:p.Arg1267Cys