Canonical Allele Identifier: CA414843429

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869409G>A (hg19) ; chrY:g.19707523G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707523G>A , CM000686.2:g.19707523G>A	GRCh38
NC_000024.9:g.21869409G>A , CM000686.1:g.21869409G>A	GRCh37
NC_000024.8:g.20328797G>A	NCBI36
NG_032920.1:g.42417C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3623C>T MANE Select	ENSP00000322408.4:p.Thr1208Ile
ENST00000317961.8:c.3623C>T	ENSP00000322408.4:p.Thr1208Ile
ENST00000382806.6:c.3452C>T	ENSP00000372256.2:p.Thr1151Ile
ENST00000415360.1:c.539C>T	ENSP00000389433.1:p.Thr180Ile
ENST00000440077.5:c.3500C>T	ENSP00000398543.1:p.Thr1167Ile
ENST00000469599.6:n.2221C>T
ENST00000492117.1:n.3515C>T
ENST00000541639.5:c.3716C>T	ENSP00000444293.1:p.Thr1239Ile
NM_001146705.1:c.3716C>T	NP_001140177.1:p.Thr1239Ile
NM_001146706.1:c.3452C>T	NP_001140178.1:p.Thr1151Ile
NM_004653.4:c.3623C>T	NP_004644.2:p.Thr1208Ile
XM_005262560.1:c.3488C>T	XP_005262617.1:p.Thr1163Ile
XM_005262561.1:c.3392C>T	XP_005262618.1:p.Thr1131Ile
XM_011531468.1:c.3545C>T	XP_011529770.1:p.Thr1182Ile
XR_244571.2:n.3911C>T
XR_430568.2:n.4245C>T
XM_005262560.3:c.3488C>T	XP_005262617.1:p.Thr1163Ile
XM_005262561.3:c.3392C>T	XP_005262618.1:p.Thr1131Ile
XM_011531468.3:c.3545C>T	XP_011529770.1:p.Thr1182Ile
XM_024452495.1:c.1613C>T	XP_024308263.1:p.Thr538Ile
XM_024452496.1:c.1379C>T	XP_024308264.1:p.Thr460Ile
XR_001756009.2:n.4361C>T
XR_001756010.2:n.4361C>T
XR_001756011.2:n.4226C>T
XR_001756012.2:n.4374C>T
XR_001756013.2:n.3692C>T
XR_002958832.1:n.3793C>T
XR_002958834.1:n.4017C>T
XR_002958835.1:n.3900C>T
XR_002958836.1:n.4583C>T
XR_002958837.1:n.4390C>T
XR_244571.4:n.3910C>T
XR_430568.4:n.4244C>T
NM_001146706.2:c.3452C>T	NP_001140178.1:p.Thr1151Ile
NM_004653.5:c.3623C>T MANE Select	NP_004644.2:p.Thr1208Ile
NM_001146705.2:c.3716C>T	NP_001140177.1:p.Thr1239Ile