Canonical Allele Identifier: CA414841957

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868707C>G (hg19) ; chrY:g.19706821C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706821C>G , CM000686.2:g.19706821C>G	GRCh38
NC_000024.9:g.21868707C>G , CM000686.1:g.21868707C>G	GRCh37
NC_000024.8:g.20328095C>G	NCBI36
NG_032920.1:g.43119G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4042G>C MANE Select	ENSP00000322408.4:p.Glu1348Gln
ENST00000317961.8:c.4042G>C	ENSP00000322408.4:p.Glu1348Gln
ENST00000382806.6:c.3871G>C	ENSP00000372256.2:p.Glu1291Gln
ENST00000440077.5:c.3919G>C	ENSP00000398543.1:p.Glu1307Gln
ENST00000469599.6:n.2640G>C
ENST00000492117.1:n.3934G>C
ENST00000541639.5:c.4135G>C	ENSP00000444293.1:p.Glu1379Gln
NM_001146705.1:c.4135G>C	NP_001140177.1:p.Glu1379Gln
NM_001146706.1:c.3871G>C	NP_001140178.1:p.Glu1291Gln
NM_004653.4:c.4042G>C	NP_004644.2:p.Glu1348Gln
XM_005262560.1:c.3907G>C	XP_005262617.1:p.Glu1303Gln
XM_005262561.1:c.3811G>C	XP_005262618.1:p.Glu1271Gln
XM_011531468.1:c.3964G>C	XP_011529770.1:p.Glu1322Gln
XR_244571.2:n.4330G>C
XR_430568.2:n.4664G>C
XM_005262560.3:c.3907G>C	XP_005262617.1:p.Glu1303Gln
XM_005262561.3:c.3811G>C	XP_005262618.1:p.Glu1271Gln
XM_011531468.3:c.3964G>C	XP_011529770.1:p.Glu1322Gln
XM_024452495.1:c.2032G>C	XP_024308263.1:p.Glu678Gln
XM_024452496.1:c.1798G>C	XP_024308264.1:p.Glu600Gln
XR_001756009.2:n.4780G>C
XR_001756010.2:n.4780G>C
XR_001756011.2:n.4645G>C
XR_001756012.2:n.4793G>C
XR_001756013.2:n.4111G>C
XR_002958832.1:n.4212G>C
XR_002958834.1:n.4436G>C
XR_002958835.1:n.4319G>C
XR_002958836.1:n.5002G>C
XR_002958837.1:n.4809G>C
XR_244571.4:n.4329G>C
XR_430568.4:n.4663G>C
NM_001146706.2:c.3871G>C	NP_001140178.1:p.Glu1291Gln
NM_004653.5:c.4042G>C MANE Select	NP_004644.2:p.Glu1348Gln
NM_001146705.2:c.4135G>C	NP_001140177.1:p.Glu1379Gln