Canonical Allele Identifier: CA414844089

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869596C>A (hg19) ; chrY:g.19707710C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707710C>A , CM000686.2:g.19707710C>A	GRCh38
NC_000024.9:g.21869596C>A , CM000686.1:g.21869596C>A	GRCh37
NC_000024.8:g.20328984C>A	NCBI36
NG_032920.1:g.42230G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3436G>T MANE Select	ENSP00000322408.4:p.Glu1146Ter
ENST00000317961.8:c.3436G>T	ENSP00000322408.4:p.Glu1146Ter
ENST00000382806.6:c.3265G>T	ENSP00000372256.2:p.Glu1089Ter
ENST00000415360.1:c.352G>T	ENSP00000389433.1:p.Glu118Ter
ENST00000440077.5:c.3313G>T	ENSP00000398543.1:p.Glu1105Ter
ENST00000469599.6:n.2034G>T
ENST00000492117.1:n.3328G>T
ENST00000541639.5:c.3529G>T	ENSP00000444293.1:p.Glu1177Ter
NM_001146705.1:c.3529G>T	NP_001140177.1:p.Glu1177Ter
NM_001146706.1:c.3265G>T	NP_001140178.1:p.Glu1089Ter
NM_004653.4:c.3436G>T	NP_004644.2:p.Glu1146Ter
XM_005262560.1:c.3301G>T	XP_005262617.1:p.Glu1101Ter
XM_005262561.1:c.3205G>T	XP_005262618.1:p.Glu1069Ter
XM_011531468.1:c.3358G>T	XP_011529770.1:p.Glu1120Ter
XR_244571.2:n.3724G>T
XR_430568.2:n.4058G>T
XM_005262560.3:c.3301G>T	XP_005262617.1:p.Glu1101Ter
XM_005262561.3:c.3205G>T	XP_005262618.1:p.Glu1069Ter
XM_011531468.3:c.3358G>T	XP_011529770.1:p.Glu1120Ter
XM_024452495.1:c.1426G>T	XP_024308263.1:p.Glu476Ter
XM_024452496.1:c.1192G>T	XP_024308264.1:p.Glu398Ter
XR_001756009.2:n.4174G>T
XR_001756010.2:n.4174G>T
XR_001756011.2:n.4039G>T
XR_001756012.2:n.4187G>T
XR_001756013.2:n.3505G>T
XR_002958832.1:n.3606G>T
XR_002958834.1:n.3830G>T
XR_002958835.1:n.3713G>T
XR_002958836.1:n.4396G>T
XR_002958837.1:n.4203G>T
XR_244571.4:n.3723G>T
XR_430568.4:n.4057G>T
NM_001146706.2:c.3265G>T	NP_001140178.1:p.Glu1089Ter
NM_004653.5:c.3436G>T MANE Select	NP_004644.2:p.Glu1146Ter
NM_001146705.2:c.3529G>T	NP_001140177.1:p.Glu1177Ter