Canonical Allele Identifier: CA414843682

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869470G>C (hg19) ; chrY:g.19707584G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707584G>C , CM000686.2:g.19707584G>C	GRCh38
NC_000024.9:g.21869470G>C , CM000686.1:g.21869470G>C	GRCh37
NC_000024.8:g.20328858G>C	NCBI36
NG_032920.1:g.42356C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3562C>G MANE Select	ENSP00000322408.4:p.Gln1188Glu
ENST00000317961.8:c.3562C>G	ENSP00000322408.4:p.Gln1188Glu
ENST00000382806.6:c.3391C>G	ENSP00000372256.2:p.Gln1131Glu
ENST00000415360.1:c.478C>G	ENSP00000389433.1:p.Gln160Glu
ENST00000440077.5:c.3439C>G	ENSP00000398543.1:p.Gln1147Glu
ENST00000469599.6:n.2160C>G
ENST00000492117.1:n.3454C>G
ENST00000541639.5:c.3655C>G	ENSP00000444293.1:p.Gln1219Glu
NM_001146705.1:c.3655C>G	NP_001140177.1:p.Gln1219Glu
NM_001146706.1:c.3391C>G	NP_001140178.1:p.Gln1131Glu
NM_004653.4:c.3562C>G	NP_004644.2:p.Gln1188Glu
XM_005262560.1:c.3427C>G	XP_005262617.1:p.Gln1143Glu
XM_005262561.1:c.3331C>G	XP_005262618.1:p.Gln1111Glu
XM_011531468.1:c.3484C>G	XP_011529770.1:p.Gln1162Glu
XR_244571.2:n.3850C>G
XR_430568.2:n.4184C>G
XM_005262560.3:c.3427C>G	XP_005262617.1:p.Gln1143Glu
XM_005262561.3:c.3331C>G	XP_005262618.1:p.Gln1111Glu
XM_011531468.3:c.3484C>G	XP_011529770.1:p.Gln1162Glu
XM_024452495.1:c.1552C>G	XP_024308263.1:p.Gln518Glu
XM_024452496.1:c.1318C>G	XP_024308264.1:p.Gln440Glu
XR_001756009.2:n.4300C>G
XR_001756010.2:n.4300C>G
XR_001756011.2:n.4165C>G
XR_001756012.2:n.4313C>G
XR_001756013.2:n.3631C>G
XR_002958832.1:n.3732C>G
XR_002958834.1:n.3956C>G
XR_002958835.1:n.3839C>G
XR_002958836.1:n.4522C>G
XR_002958837.1:n.4329C>G
XR_244571.4:n.3849C>G
XR_430568.4:n.4183C>G
NM_001146706.2:c.3391C>G	NP_001140178.1:p.Gln1131Glu
NM_004653.5:c.3562C>G MANE Select	NP_004644.2:p.Gln1188Glu
NM_001146705.2:c.3655C>G	NP_001140177.1:p.Gln1219Glu