Canonical Allele Identifier: CA414843220

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869347A>T (hg19) ; chrY:g.19707461A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707461A>T , CM000686.2:g.19707461A>T	GRCh38
NC_000024.9:g.21869347A>T , CM000686.1:g.21869347A>T	GRCh37
NC_000024.8:g.20328735A>T	NCBI36
NG_032920.1:g.42479T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3685T>A MANE Select	ENSP00000322408.4:p.Phe1229Ile
ENST00000317961.8:c.3685T>A	ENSP00000322408.4:p.Phe1229Ile
ENST00000382806.6:c.3514T>A	ENSP00000372256.2:p.Phe1172Ile
ENST00000415360.1:c.601T>A	ENSP00000389433.1:p.Phe201Ile
ENST00000440077.5:c.3562T>A	ENSP00000398543.1:p.Phe1188Ile
ENST00000469599.6:n.2283T>A
ENST00000492117.1:n.3577T>A
ENST00000541639.5:c.3778T>A	ENSP00000444293.1:p.Phe1260Ile
NM_001146705.1:c.3778T>A	NP_001140177.1:p.Phe1260Ile
NM_001146706.1:c.3514T>A	NP_001140178.1:p.Phe1172Ile
NM_004653.4:c.3685T>A	NP_004644.2:p.Phe1229Ile
XM_005262560.1:c.3550T>A	XP_005262617.1:p.Phe1184Ile
XM_005262561.1:c.3454T>A	XP_005262618.1:p.Phe1152Ile
XM_011531468.1:c.3607T>A	XP_011529770.1:p.Phe1203Ile
XR_244571.2:n.3973T>A
XR_430568.2:n.4307T>A
XM_005262560.3:c.3550T>A	XP_005262617.1:p.Phe1184Ile
XM_005262561.3:c.3454T>A	XP_005262618.1:p.Phe1152Ile
XM_011531468.3:c.3607T>A	XP_011529770.1:p.Phe1203Ile
XM_024452495.1:c.1675T>A	XP_024308263.1:p.Phe559Ile
XM_024452496.1:c.1441T>A	XP_024308264.1:p.Phe481Ile
XR_001756009.2:n.4423T>A
XR_001756010.2:n.4423T>A
XR_001756011.2:n.4288T>A
XR_001756012.2:n.4436T>A
XR_001756013.2:n.3754T>A
XR_002958832.1:n.3855T>A
XR_002958834.1:n.4079T>A
XR_002958835.1:n.3962T>A
XR_002958836.1:n.4645T>A
XR_002958837.1:n.4452T>A
XR_244571.4:n.3972T>A
XR_430568.4:n.4306T>A
NM_001146706.2:c.3514T>A	NP_001140178.1:p.Phe1172Ile
NM_004653.5:c.3685T>A MANE Select	NP_004644.2:p.Phe1229Ile
NM_001146705.2:c.3778T>A	NP_001140177.1:p.Phe1260Ile