Canonical Allele Identifier: CA414840424

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868059T>G (hg19) ; chrY:g.19706173T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706173T>G , CM000686.2:g.19706173T>G	GRCh38
NC_000024.9:g.21868059T>G , CM000686.1:g.21868059T>G	GRCh37
NC_000024.8:g.20327447T>G	NCBI36
NG_032920.1:g.43767A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4442A>C MANE Select	ENSP00000322408.4:p.Glu1481Ala
ENST00000317961.8:c.4442A>C	ENSP00000322408.4:p.Glu1481Ala
ENST00000382806.6:c.4271A>C	ENSP00000372256.2:p.Glu1424Ala
ENST00000440077.5:c.4319A>C	ENSP00000398543.1:p.Glu1440Ala
ENST00000469599.6:n.3193A>C
ENST00000492117.1:n.4487A>C
ENST00000541639.5:c.4535A>C	ENSP00000444293.1:p.Glu1512Ala
NM_001146705.1:c.4535A>C	NP_001140177.1:p.Glu1512Ala
NM_001146706.1:c.4271A>C	NP_001140178.1:p.Glu1424Ala
NM_004653.4:c.4442A>C	NP_004644.2:p.Glu1481Ala
XM_005262560.1:c.4307A>C	XP_005262617.1:p.Glu1436Ala
XM_005262561.1:c.4211A>C	XP_005262618.1:p.Glu1404Ala
XM_011531468.1:c.4364A>C	XP_011529770.1:p.Glu1455Ala
XR_430568.2:n.5217A>C
XM_005262560.3:c.4307A>C	XP_005262617.1:p.Glu1436Ala
XM_005262561.3:c.4211A>C	XP_005262618.1:p.Glu1404Ala
XM_011531468.3:c.4364A>C	XP_011529770.1:p.Glu1455Ala
XM_024452495.1:c.2432A>C	XP_024308263.1:p.Glu811Ala
XM_024452496.1:c.2198A>C	XP_024308264.1:p.Glu733Ala
XR_001756009.2:n.5180A>C
XR_001756010.2:n.5148A>C
XR_001756011.2:n.5045A>C
XR_001756012.2:n.5193A>C
XR_001756013.2:n.4511A>C
XR_002958832.1:n.4765A>C
XR_002958834.1:n.4836A>C
XR_002958835.1:n.4719A>C
XR_002958836.1:n.5370A>C
XR_002958837.1:n.5177A>C
XR_244571.4:n.4697A>C
XR_430568.4:n.5216A>C
NM_001146706.2:c.4271A>C	NP_001140178.1:p.Glu1424Ala
NM_004653.5:c.4442A>C MANE Select	NP_004644.2:p.Glu1481Ala
NM_001146705.2:c.4535A>C	NP_001140177.1:p.Glu1512Ala