Canonical Allele Identifier: CA414843311

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869371C>T (hg19) ; chrY:g.19707485C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707485C>T , CM000686.2:g.19707485C>T	GRCh38
NC_000024.9:g.21869371C>T , CM000686.1:g.21869371C>T	GRCh37
NC_000024.8:g.20328759C>T	NCBI36
NG_032920.1:g.42455G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3661G>A MANE Select	ENSP00000322408.4:p.Ala1221Thr
ENST00000317961.8:c.3661G>A	ENSP00000322408.4:p.Ala1221Thr
ENST00000382806.6:c.3490G>A	ENSP00000372256.2:p.Ala1164Thr
ENST00000415360.1:c.577G>A	ENSP00000389433.1:p.Ala193Thr
ENST00000440077.5:c.3538G>A	ENSP00000398543.1:p.Ala1180Thr
ENST00000469599.6:n.2259G>A
ENST00000492117.1:n.3553G>A
ENST00000541639.5:c.3754G>A	ENSP00000444293.1:p.Ala1252Thr
NM_001146705.1:c.3754G>A	NP_001140177.1:p.Ala1252Thr
NM_001146706.1:c.3490G>A	NP_001140178.1:p.Ala1164Thr
NM_004653.4:c.3661G>A	NP_004644.2:p.Ala1221Thr
XM_005262560.1:c.3526G>A	XP_005262617.1:p.Ala1176Thr
XM_005262561.1:c.3430G>A	XP_005262618.1:p.Ala1144Thr
XM_011531468.1:c.3583G>A	XP_011529770.1:p.Ala1195Thr
XR_244571.2:n.3949G>A
XR_430568.2:n.4283G>A
XM_005262560.3:c.3526G>A	XP_005262617.1:p.Ala1176Thr
XM_005262561.3:c.3430G>A	XP_005262618.1:p.Ala1144Thr
XM_011531468.3:c.3583G>A	XP_011529770.1:p.Ala1195Thr
XM_024452495.1:c.1651G>A	XP_024308263.1:p.Ala551Thr
XM_024452496.1:c.1417G>A	XP_024308264.1:p.Ala473Thr
XR_001756009.2:n.4399G>A
XR_001756010.2:n.4399G>A
XR_001756011.2:n.4264G>A
XR_001756012.2:n.4412G>A
XR_001756013.2:n.3730G>A
XR_002958832.1:n.3831G>A
XR_002958834.1:n.4055G>A
XR_002958835.1:n.3938G>A
XR_002958836.1:n.4621G>A
XR_002958837.1:n.4428G>A
XR_244571.4:n.3948G>A
XR_430568.4:n.4282G>A
NM_001146706.2:c.3490G>A	NP_001140178.1:p.Ala1164Thr
NM_004653.5:c.3661G>A MANE Select	NP_004644.2:p.Ala1221Thr
NM_001146705.2:c.3754G>A	NP_001140177.1:p.Ala1252Thr