Canonical Allele Identifier: CA414843721

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869481A>T (hg19) ; chrY:g.19707595A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707595A>T , CM000686.2:g.19707595A>T	GRCh38
NC_000024.9:g.21869481A>T , CM000686.1:g.21869481A>T	GRCh37
NC_000024.8:g.20328869A>T	NCBI36
NG_032920.1:g.42345T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3551T>A MANE Select	ENSP00000322408.4:p.Val1184Glu
ENST00000317961.8:c.3551T>A	ENSP00000322408.4:p.Val1184Glu
ENST00000382806.6:c.3380T>A	ENSP00000372256.2:p.Val1127Glu
ENST00000415360.1:c.467T>A	ENSP00000389433.1:p.Val156Glu
ENST00000440077.5:c.3428T>A	ENSP00000398543.1:p.Val1143Glu
ENST00000469599.6:n.2149T>A
ENST00000492117.1:n.3443T>A
ENST00000541639.5:c.3644T>A	ENSP00000444293.1:p.Val1215Glu
NM_001146705.1:c.3644T>A	NP_001140177.1:p.Val1215Glu
NM_001146706.1:c.3380T>A	NP_001140178.1:p.Val1127Glu
NM_004653.4:c.3551T>A	NP_004644.2:p.Val1184Glu
XM_005262560.1:c.3416T>A	XP_005262617.1:p.Val1139Glu
XM_005262561.1:c.3320T>A	XP_005262618.1:p.Val1107Glu
XM_011531468.1:c.3473T>A	XP_011529770.1:p.Val1158Glu
XR_244571.2:n.3839T>A
XR_430568.2:n.4173T>A
XM_005262560.3:c.3416T>A	XP_005262617.1:p.Val1139Glu
XM_005262561.3:c.3320T>A	XP_005262618.1:p.Val1107Glu
XM_011531468.3:c.3473T>A	XP_011529770.1:p.Val1158Glu
XM_024452495.1:c.1541T>A	XP_024308263.1:p.Val514Glu
XM_024452496.1:c.1307T>A	XP_024308264.1:p.Val436Glu
XR_001756009.2:n.4289T>A
XR_001756010.2:n.4289T>A
XR_001756011.2:n.4154T>A
XR_001756012.2:n.4302T>A
XR_001756013.2:n.3620T>A
XR_002958832.1:n.3721T>A
XR_002958834.1:n.3945T>A
XR_002958835.1:n.3828T>A
XR_002958836.1:n.4511T>A
XR_002958837.1:n.4318T>A
XR_244571.4:n.3838T>A
XR_430568.4:n.4172T>A
NM_001146706.2:c.3380T>A	NP_001140178.1:p.Val1127Glu
NM_004653.5:c.3551T>A MANE Select	NP_004644.2:p.Val1184Glu
NM_001146705.2:c.3644T>A	NP_001140177.1:p.Val1215Glu