Canonical Allele Identifier: CA414843890

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869530C>T (hg19) ; chrY:g.19707644C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707644C>T , CM000686.2:g.19707644C>T	GRCh38
NC_000024.9:g.21869530C>T , CM000686.1:g.21869530C>T	GRCh37
NC_000024.8:g.20328918C>T	NCBI36
NG_032920.1:g.42296G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3502G>A MANE Select	ENSP00000322408.4:p.Ala1168Thr
ENST00000317961.8:c.3502G>A	ENSP00000322408.4:p.Ala1168Thr
ENST00000382806.6:c.3331G>A	ENSP00000372256.2:p.Ala1111Thr
ENST00000415360.1:c.418G>A	ENSP00000389433.1:p.Ala140Thr
ENST00000440077.5:c.3379G>A	ENSP00000398543.1:p.Ala1127Thr
ENST00000469599.6:n.2100G>A
ENST00000492117.1:n.3394G>A
ENST00000541639.5:c.3595G>A	ENSP00000444293.1:p.Ala1199Thr
NM_001146705.1:c.3595G>A	NP_001140177.1:p.Ala1199Thr
NM_001146706.1:c.3331G>A	NP_001140178.1:p.Ala1111Thr
NM_004653.4:c.3502G>A	NP_004644.2:p.Ala1168Thr
XM_005262560.1:c.3367G>A	XP_005262617.1:p.Ala1123Thr
XM_005262561.1:c.3271G>A	XP_005262618.1:p.Ala1091Thr
XM_011531468.1:c.3424G>A	XP_011529770.1:p.Ala1142Thr
XR_244571.2:n.3790G>A
XR_430568.2:n.4124G>A
XM_005262560.3:c.3367G>A	XP_005262617.1:p.Ala1123Thr
XM_005262561.3:c.3271G>A	XP_005262618.1:p.Ala1091Thr
XM_011531468.3:c.3424G>A	XP_011529770.1:p.Ala1142Thr
XM_024452495.1:c.1492G>A	XP_024308263.1:p.Ala498Thr
XM_024452496.1:c.1258G>A	XP_024308264.1:p.Ala420Thr
XR_001756009.2:n.4240G>A
XR_001756010.2:n.4240G>A
XR_001756011.2:n.4105G>A
XR_001756012.2:n.4253G>A
XR_001756013.2:n.3571G>A
XR_002958832.1:n.3672G>A
XR_002958834.1:n.3896G>A
XR_002958835.1:n.3779G>A
XR_002958836.1:n.4462G>A
XR_002958837.1:n.4269G>A
XR_244571.4:n.3789G>A
XR_430568.4:n.4123G>A
NM_001146706.2:c.3331G>A	NP_001140178.1:p.Ala1111Thr
NM_004653.5:c.3502G>A MANE Select	NP_004644.2:p.Ala1168Thr
NM_001146705.2:c.3595G>A	NP_001140177.1:p.Ala1199Thr