Canonical Allele Identifier: CA414841909

Gene: KDM5D

Linked Data

• dbSNP Id: rs1190646379
• gnomAD v2: Y-21868697-G-A
• COSMIC: COSM3144284
• MyVariant Identifiers: chrY:g.21868697G>A (hg19) ; chrY:g.19706811G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706811G>A , CM000686.2:g.19706811G>A	GRCh38
NC_000024.9:g.21868697G>A , CM000686.1:g.21868697G>A	GRCh37
NC_000024.8:g.20328085G>A	NCBI36
NG_032920.1:g.43129C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000317961.9:c.4052C>T MANE Select	ENSP00000322408.4:p.Ala1351Val
ENST00000317961.8:c.4052C>T	ENSP00000322408.4:p.Ala1351Val
ENST00000382806.6:c.3881C>T	ENSP00000372256.2:p.Ala1294Val
ENST00000440077.5:c.3929C>T	ENSP00000398543.1:p.Ala1310Val
ENST00000469599.6:n.2650C>T
ENST00000492117.1:n.3944C>T
ENST00000541639.5:c.4145C>T	ENSP00000444293.1:p.Ala1382Val
NM_001146705.1:c.4145C>T	NP_001140177.1:p.Ala1382Val
NM_001146706.1:c.3881C>T	NP_001140178.1:p.Ala1294Val
NM_004653.4:c.4052C>T	NP_004644.2:p.Ala1351Val
XM_005262560.1:c.3917C>T	XP_005262617.1:p.Ala1306Val
XM_005262561.1:c.3821C>T	XP_005262618.1:p.Ala1274Val
XM_011531468.1:c.3974C>T	XP_011529770.1:p.Ala1325Val
XR_244571.2:n.4340C>T
XR_430568.2:n.4674C>T
XM_005262560.3:c.3917C>T	XP_005262617.1:p.Ala1306Val
XM_005262561.3:c.3821C>T	XP_005262618.1:p.Ala1274Val
XM_011531468.3:c.3974C>T	XP_011529770.1:p.Ala1325Val
XM_024452495.1:c.2042C>T	XP_024308263.1:p.Ala681Val
XM_024452496.1:c.1808C>T	XP_024308264.1:p.Ala603Val
XR_001756009.2:n.4790C>T
XR_001756010.2:n.4790C>T
XR_001756011.2:n.4655C>T
XR_001756012.2:n.4803C>T
XR_001756013.2:n.4121C>T
XR_002958832.1:n.4222C>T
XR_002958834.1:n.4446C>T
XR_002958835.1:n.4329C>T
XR_002958836.1:n.5012C>T
XR_002958837.1:n.4819C>T
XR_244571.4:n.4339C>T
XR_430568.4:n.4673C>T
NM_001146706.2:c.3881C>T	NP_001140178.1:p.Ala1294Val
NM_004653.5:c.4052C>T MANE Select	NP_004644.2:p.Ala1351Val
NM_001146705.2:c.4145C>T	NP_001140177.1:p.Ala1382Val