Canonical Allele Identifier: CA414843511

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869430A>T (hg19) ; chrY:g.19707544A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707544A>T , CM000686.2:g.19707544A>T	GRCh38
NC_000024.9:g.21869430A>T , CM000686.1:g.21869430A>T	GRCh37
NC_000024.8:g.20328818A>T	NCBI36
NG_032920.1:g.42396T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3602T>A MANE Select	ENSP00000322408.4:p.Val1201Glu
ENST00000317961.8:c.3602T>A	ENSP00000322408.4:p.Val1201Glu
ENST00000382806.6:c.3431T>A	ENSP00000372256.2:p.Val1144Glu
ENST00000415360.1:c.518T>A	ENSP00000389433.1:p.Val173Glu
ENST00000440077.5:c.3479T>A	ENSP00000398543.1:p.Val1160Glu
ENST00000469599.6:n.2200T>A
ENST00000492117.1:n.3494T>A
ENST00000541639.5:c.3695T>A	ENSP00000444293.1:p.Val1232Glu
NM_001146705.1:c.3695T>A	NP_001140177.1:p.Val1232Glu
NM_001146706.1:c.3431T>A	NP_001140178.1:p.Val1144Glu
NM_004653.4:c.3602T>A	NP_004644.2:p.Val1201Glu
XM_005262560.1:c.3467T>A	XP_005262617.1:p.Val1156Glu
XM_005262561.1:c.3371T>A	XP_005262618.1:p.Val1124Glu
XM_011531468.1:c.3524T>A	XP_011529770.1:p.Val1175Glu
XR_244571.2:n.3890T>A
XR_430568.2:n.4224T>A
XM_005262560.3:c.3467T>A	XP_005262617.1:p.Val1156Glu
XM_005262561.3:c.3371T>A	XP_005262618.1:p.Val1124Glu
XM_011531468.3:c.3524T>A	XP_011529770.1:p.Val1175Glu
XM_024452495.1:c.1592T>A	XP_024308263.1:p.Val531Glu
XM_024452496.1:c.1358T>A	XP_024308264.1:p.Val453Glu
XR_001756009.2:n.4340T>A
XR_001756010.2:n.4340T>A
XR_001756011.2:n.4205T>A
XR_001756012.2:n.4353T>A
XR_001756013.2:n.3671T>A
XR_002958832.1:n.3772T>A
XR_002958834.1:n.3996T>A
XR_002958835.1:n.3879T>A
XR_002958836.1:n.4562T>A
XR_002958837.1:n.4369T>A
XR_244571.4:n.3889T>A
XR_430568.4:n.4223T>A
NM_001146706.2:c.3431T>A	NP_001140178.1:p.Val1144Glu
NM_004653.5:c.3602T>A MANE Select	NP_004644.2:p.Val1201Glu
NM_001146705.2:c.3695T>A	NP_001140177.1:p.Val1232Glu