Canonical Allele Identifier: CA414840076

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21867972C>T (hg19) ; chrY:g.19706086C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706086C>T , CM000686.2:g.19706086C>T	GRCh38
NC_000024.9:g.21867972C>T , CM000686.1:g.21867972C>T	GRCh37
NC_000024.8:g.20327360C>T	NCBI36
NG_032920.1:g.43854G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4529G>A MANE Select	ENSP00000322408.4:p.Ser1510Asn
ENST00000317961.8:c.4529G>A	ENSP00000322408.4:p.Ser1510Asn
ENST00000382806.6:c.4358G>A	ENSP00000372256.2:p.Ser1453Asn
ENST00000440077.5:c.4406G>A	ENSP00000398543.1:p.Ser1469Asn
ENST00000469599.6:n.3280G>A
ENST00000492117.1:n.4574G>A
ENST00000541639.5:c.4622G>A	ENSP00000444293.1:p.Ser1541Asn
NM_001146705.1:c.4622G>A	NP_001140177.1:p.Ser1541Asn
NM_001146706.1:c.4358G>A	NP_001140178.1:p.Ser1453Asn
NM_004653.4:c.4529G>A	NP_004644.2:p.Ser1510Asn
XM_005262560.1:c.4394G>A	XP_005262617.1:p.Ser1465Asn
XM_005262561.1:c.4298G>A	XP_005262618.1:p.Ser1433Asn
XM_011531468.1:c.4451G>A	XP_011529770.1:p.Ser1484Asn
XR_430568.2:n.5304G>A
XM_005262560.3:c.4394G>A	XP_005262617.1:p.Ser1465Asn
XM_005262561.3:c.4298G>A	XP_005262618.1:p.Ser1433Asn
XM_011531468.3:c.4451G>A	XP_011529770.1:p.Ser1484Asn
XM_024452495.1:c.2519G>A	XP_024308263.1:p.Ser840Asn
XM_024452496.1:c.2285G>A	XP_024308264.1:p.Ser762Asn
XR_001756009.2:n.5267G>A
XR_001756010.2:n.5235G>A
XR_001756011.2:n.5132G>A
XR_001756012.2:n.5280G>A
XR_001756013.2:n.4598G>A
XR_002958832.1:n.4852G>A
XR_002958834.1:n.4923G>A
XR_002958835.1:n.4806G>A
XR_002958836.1:n.5457G>A
XR_002958837.1:n.5264G>A
XR_244571.4:n.4784G>A
XR_430568.4:n.5303G>A
NM_001146706.2:c.4358G>A	NP_001140178.1:p.Ser1453Asn
NM_004653.5:c.4529G>A MANE Select	NP_004644.2:p.Ser1510Asn
NM_001146705.2:c.4622G>A	NP_001140177.1:p.Ser1541Asn