Canonical Allele Identifier: CA414840342

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868042C>T (hg19) ; chrY:g.19706156C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706156C>T , CM000686.2:g.19706156C>T	GRCh38
NC_000024.9:g.21868042C>T , CM000686.1:g.21868042C>T	GRCh37
NC_000024.8:g.20327430C>T	NCBI36
NG_032920.1:g.43784G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4459G>A MANE Select	ENSP00000322408.4:p.Ala1487Thr
ENST00000317961.8:c.4459G>A	ENSP00000322408.4:p.Ala1487Thr
ENST00000382806.6:c.4288G>A	ENSP00000372256.2:p.Ala1430Thr
ENST00000440077.5:c.4336G>A	ENSP00000398543.1:p.Ala1446Thr
ENST00000469599.6:n.3210G>A
ENST00000492117.1:n.4504G>A
ENST00000541639.5:c.4552G>A	ENSP00000444293.1:p.Ala1518Thr
NM_001146705.1:c.4552G>A	NP_001140177.1:p.Ala1518Thr
NM_001146706.1:c.4288G>A	NP_001140178.1:p.Ala1430Thr
NM_004653.4:c.4459G>A	NP_004644.2:p.Ala1487Thr
XM_005262560.1:c.4324G>A	XP_005262617.1:p.Ala1442Thr
XM_005262561.1:c.4228G>A	XP_005262618.1:p.Ala1410Thr
XM_011531468.1:c.4381G>A	XP_011529770.1:p.Ala1461Thr
XR_430568.2:n.5234G>A
XM_005262560.3:c.4324G>A	XP_005262617.1:p.Ala1442Thr
XM_005262561.3:c.4228G>A	XP_005262618.1:p.Ala1410Thr
XM_011531468.3:c.4381G>A	XP_011529770.1:p.Ala1461Thr
XM_024452495.1:c.2449G>A	XP_024308263.1:p.Ala817Thr
XM_024452496.1:c.2215G>A	XP_024308264.1:p.Ala739Thr
XR_001756009.2:n.5197G>A
XR_001756010.2:n.5165G>A
XR_001756011.2:n.5062G>A
XR_001756012.2:n.5210G>A
XR_001756013.2:n.4528G>A
XR_002958832.1:n.4782G>A
XR_002958834.1:n.4853G>A
XR_002958835.1:n.4736G>A
XR_002958836.1:n.5387G>A
XR_002958837.1:n.5194G>A
XR_244571.4:n.4714G>A
XR_430568.4:n.5233G>A
NM_001146706.2:c.4288G>A	NP_001140178.1:p.Ala1430Thr
NM_004653.5:c.4459G>A MANE Select	NP_004644.2:p.Ala1487Thr
NM_001146705.2:c.4552G>A	NP_001140177.1:p.Ala1518Thr