Canonical Allele Identifier: CA414841953

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868706T>G (hg19) ; chrY:g.19706820T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706820T>G , CM000686.2:g.19706820T>G	GRCh38
NC_000024.9:g.21868706T>G , CM000686.1:g.21868706T>G	GRCh37
NC_000024.8:g.20328094T>G	NCBI36
NG_032920.1:g.43120A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4043A>C MANE Select	ENSP00000322408.4:p.Glu1348Ala
ENST00000317961.8:c.4043A>C	ENSP00000322408.4:p.Glu1348Ala
ENST00000382806.6:c.3872A>C	ENSP00000372256.2:p.Glu1291Ala
ENST00000440077.5:c.3920A>C	ENSP00000398543.1:p.Glu1307Ala
ENST00000469599.6:n.2641A>C
ENST00000492117.1:n.3935A>C
ENST00000541639.5:c.4136A>C	ENSP00000444293.1:p.Glu1379Ala
NM_001146705.1:c.4136A>C	NP_001140177.1:p.Glu1379Ala
NM_001146706.1:c.3872A>C	NP_001140178.1:p.Glu1291Ala
NM_004653.4:c.4043A>C	NP_004644.2:p.Glu1348Ala
XM_005262560.1:c.3908A>C	XP_005262617.1:p.Glu1303Ala
XM_005262561.1:c.3812A>C	XP_005262618.1:p.Glu1271Ala
XM_011531468.1:c.3965A>C	XP_011529770.1:p.Glu1322Ala
XR_244571.2:n.4331A>C
XR_430568.2:n.4665A>C
XM_005262560.3:c.3908A>C	XP_005262617.1:p.Glu1303Ala
XM_005262561.3:c.3812A>C	XP_005262618.1:p.Glu1271Ala
XM_011531468.3:c.3965A>C	XP_011529770.1:p.Glu1322Ala
XM_024452495.1:c.2033A>C	XP_024308263.1:p.Glu678Ala
XM_024452496.1:c.1799A>C	XP_024308264.1:p.Glu600Ala
XR_001756009.2:n.4781A>C
XR_001756010.2:n.4781A>C
XR_001756011.2:n.4646A>C
XR_001756012.2:n.4794A>C
XR_001756013.2:n.4112A>C
XR_002958832.1:n.4213A>C
XR_002958834.1:n.4437A>C
XR_002958835.1:n.4320A>C
XR_002958836.1:n.5003A>C
XR_002958837.1:n.4810A>C
XR_244571.4:n.4330A>C
XR_430568.4:n.4664A>C
NM_001146706.2:c.3872A>C	NP_001140178.1:p.Glu1291Ala
NM_004653.5:c.4043A>C MANE Select	NP_004644.2:p.Glu1348Ala
NM_001146705.2:c.4136A>C	NP_001140177.1:p.Glu1379Ala