Canonical Allele Identifier: CA414840276

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868024A>T (hg19) ; chrY:g.19706138A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706138A>T , CM000686.2:g.19706138A>T	GRCh38
NC_000024.9:g.21868024A>T , CM000686.1:g.21868024A>T	GRCh37
NC_000024.8:g.20327412A>T	NCBI36
NG_032920.1:g.43802T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4477T>A MANE Select	ENSP00000322408.4:p.Phe1493Ile
ENST00000317961.8:c.4477T>A	ENSP00000322408.4:p.Phe1493Ile
ENST00000382806.6:c.4306T>A	ENSP00000372256.2:p.Phe1436Ile
ENST00000440077.5:c.4354T>A	ENSP00000398543.1:p.Phe1452Ile
ENST00000469599.6:n.3228T>A
ENST00000492117.1:n.4522T>A
ENST00000541639.5:c.4570T>A	ENSP00000444293.1:p.Phe1524Ile
NM_001146705.1:c.4570T>A	NP_001140177.1:p.Phe1524Ile
NM_001146706.1:c.4306T>A	NP_001140178.1:p.Phe1436Ile
NM_004653.4:c.4477T>A	NP_004644.2:p.Phe1493Ile
XM_005262560.1:c.4342T>A	XP_005262617.1:p.Phe1448Ile
XM_005262561.1:c.4246T>A	XP_005262618.1:p.Phe1416Ile
XM_011531468.1:c.4399T>A	XP_011529770.1:p.Phe1467Ile
XR_430568.2:n.5252T>A
XM_005262560.3:c.4342T>A	XP_005262617.1:p.Phe1448Ile
XM_005262561.3:c.4246T>A	XP_005262618.1:p.Phe1416Ile
XM_011531468.3:c.4399T>A	XP_011529770.1:p.Phe1467Ile
XM_024452495.1:c.2467T>A	XP_024308263.1:p.Phe823Ile
XM_024452496.1:c.2233T>A	XP_024308264.1:p.Phe745Ile
XR_001756009.2:n.5215T>A
XR_001756010.2:n.5183T>A
XR_001756011.2:n.5080T>A
XR_001756012.2:n.5228T>A
XR_001756013.2:n.4546T>A
XR_002958832.1:n.4800T>A
XR_002958834.1:n.4871T>A
XR_002958835.1:n.4754T>A
XR_002958836.1:n.5405T>A
XR_002958837.1:n.5212T>A
XR_244571.4:n.4732T>A
XR_430568.4:n.5251T>A
NM_001146706.2:c.4306T>A	NP_001140178.1:p.Phe1436Ile
NM_004653.5:c.4477T>A MANE Select	NP_004644.2:p.Phe1493Ile
NM_001146705.2:c.4570T>A	NP_001140177.1:p.Phe1524Ile