Canonical Allele Identifier: CA414840245

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868017G>A (hg19) ; chrY:g.19706131G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706131G>A , CM000686.2:g.19706131G>A	GRCh38
NC_000024.9:g.21868017G>A , CM000686.1:g.21868017G>A	GRCh37
NC_000024.8:g.20327405G>A	NCBI36
NG_032920.1:g.43809C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4484C>T MANE Select	ENSP00000322408.4:p.Thr1495Ile
ENST00000317961.8:c.4484C>T	ENSP00000322408.4:p.Thr1495Ile
ENST00000382806.6:c.4313C>T	ENSP00000372256.2:p.Thr1438Ile
ENST00000440077.5:c.4361C>T	ENSP00000398543.1:p.Thr1454Ile
ENST00000469599.6:n.3235C>T
ENST00000492117.1:n.4529C>T
ENST00000541639.5:c.4577C>T	ENSP00000444293.1:p.Thr1526Ile
NM_001146705.1:c.4577C>T	NP_001140177.1:p.Thr1526Ile
NM_001146706.1:c.4313C>T	NP_001140178.1:p.Thr1438Ile
NM_004653.4:c.4484C>T	NP_004644.2:p.Thr1495Ile
XM_005262560.1:c.4349C>T	XP_005262617.1:p.Thr1450Ile
XM_005262561.1:c.4253C>T	XP_005262618.1:p.Thr1418Ile
XM_011531468.1:c.4406C>T	XP_011529770.1:p.Thr1469Ile
XR_430568.2:n.5259C>T
XM_005262560.3:c.4349C>T	XP_005262617.1:p.Thr1450Ile
XM_005262561.3:c.4253C>T	XP_005262618.1:p.Thr1418Ile
XM_011531468.3:c.4406C>T	XP_011529770.1:p.Thr1469Ile
XM_024452495.1:c.2474C>T	XP_024308263.1:p.Thr825Ile
XM_024452496.1:c.2240C>T	XP_024308264.1:p.Thr747Ile
XR_001756009.2:n.5222C>T
XR_001756010.2:n.5190C>T
XR_001756011.2:n.5087C>T
XR_001756012.2:n.5235C>T
XR_001756013.2:n.4553C>T
XR_002958832.1:n.4807C>T
XR_002958834.1:n.4878C>T
XR_002958835.1:n.4761C>T
XR_002958836.1:n.5412C>T
XR_002958837.1:n.5219C>T
XR_244571.4:n.4739C>T
XR_430568.4:n.5258C>T
NM_001146706.2:c.4313C>T	NP_001140178.1:p.Thr1438Ile
NM_004653.5:c.4484C>T MANE Select	NP_004644.2:p.Thr1495Ile
NM_001146705.2:c.4577C>T	NP_001140177.1:p.Thr1526Ile