Canonical Allele Identifier: CA414843360

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869389T>C (hg19) ; chrY:g.19707503T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707503T>C , CM000686.2:g.19707503T>C	GRCh38
NC_000024.9:g.21869389T>C , CM000686.1:g.21869389T>C	GRCh37
NC_000024.8:g.20328777T>C	NCBI36
NG_032920.1:g.42437A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3643A>G MANE Select	ENSP00000322408.4:p.Thr1215Ala
ENST00000317961.8:c.3643A>G	ENSP00000322408.4:p.Thr1215Ala
ENST00000382806.6:c.3472A>G	ENSP00000372256.2:p.Thr1158Ala
ENST00000415360.1:c.559A>G	ENSP00000389433.1:p.Thr187Ala
ENST00000440077.5:c.3520A>G	ENSP00000398543.1:p.Thr1174Ala
ENST00000469599.6:n.2241A>G
ENST00000492117.1:n.3535A>G
ENST00000541639.5:c.3736A>G	ENSP00000444293.1:p.Thr1246Ala
NM_001146705.1:c.3736A>G	NP_001140177.1:p.Thr1246Ala
NM_001146706.1:c.3472A>G	NP_001140178.1:p.Thr1158Ala
NM_004653.4:c.3643A>G	NP_004644.2:p.Thr1215Ala
XM_005262560.1:c.3508A>G	XP_005262617.1:p.Thr1170Ala
XM_005262561.1:c.3412A>G	XP_005262618.1:p.Thr1138Ala
XM_011531468.1:c.3565A>G	XP_011529770.1:p.Thr1189Ala
XR_244571.2:n.3931A>G
XR_430568.2:n.4265A>G
XM_005262560.3:c.3508A>G	XP_005262617.1:p.Thr1170Ala
XM_005262561.3:c.3412A>G	XP_005262618.1:p.Thr1138Ala
XM_011531468.3:c.3565A>G	XP_011529770.1:p.Thr1189Ala
XM_024452495.1:c.1633A>G	XP_024308263.1:p.Thr545Ala
XM_024452496.1:c.1399A>G	XP_024308264.1:p.Thr467Ala
XR_001756009.2:n.4381A>G
XR_001756010.2:n.4381A>G
XR_001756011.2:n.4246A>G
XR_001756012.2:n.4394A>G
XR_001756013.2:n.3712A>G
XR_002958832.1:n.3813A>G
XR_002958834.1:n.4037A>G
XR_002958835.1:n.3920A>G
XR_002958836.1:n.4603A>G
XR_002958837.1:n.4410A>G
XR_244571.4:n.3930A>G
XR_430568.4:n.4264A>G
NM_001146706.2:c.3472A>G	NP_001140178.1:p.Thr1158Ala
NM_004653.5:c.3643A>G MANE Select	NP_004644.2:p.Thr1215Ala
NM_001146705.2:c.3736A>G	NP_001140177.1:p.Thr1246Ala