Canonical Allele Identifier: CA10574666

Gene: KDM5D

Linked Data

• dbSNP Id: rs767104385
• ExAC: Y:21868064 T / G
• gnomAD v2: Y-21868064-T-G
• MyVariant Identifiers: chrY:g.21868064T>G (hg19) ; chrY:g.19706178T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706178T>G , CM000686.2:g.19706178T>G	GRCh38
NC_000024.9:g.21868064T>G , CM000686.1:g.21868064T>G	GRCh37
NC_000024.8:g.20327452T>G	NCBI36
NG_032920.1:g.43762A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4437A>C MANE Select	ENSP00000322408.4:p.Glu1479Asp
ENST00000317961.8:c.4437A>C	ENSP00000322408.4:p.Glu1479Asp
ENST00000382806.6:c.4266A>C	ENSP00000372256.2:p.Glu1422Asp
ENST00000440077.5:c.4314A>C	ENSP00000398543.1:p.Glu1438Asp
ENST00000469599.6:n.3188A>C
ENST00000492117.1:n.4482A>C
ENST00000541639.5:c.4530A>C	ENSP00000444293.1:p.Glu1510Asp
NM_001146705.1:c.4530A>C	NP_001140177.1:p.Glu1510Asp
NM_001146706.1:c.4266A>C	NP_001140178.1:p.Glu1422Asp
NM_004653.4:c.4437A>C	NP_004644.2:p.Glu1479Asp
XM_005262560.1:c.4302A>C	XP_005262617.1:p.Glu1434Asp
XM_005262561.1:c.4206A>C	XP_005262618.1:p.Glu1402Asp
XM_011531468.1:c.4359A>C	XP_011529770.1:p.Glu1453Asp
XR_430568.2:n.5212A>C
XM_005262560.3:c.4302A>C	XP_005262617.1:p.Glu1434Asp
XM_005262561.3:c.4206A>C	XP_005262618.1:p.Glu1402Asp
XM_011531468.3:c.4359A>C	XP_011529770.1:p.Glu1453Asp
XM_024452495.1:c.2427A>C	XP_024308263.1:p.Glu809Asp
XM_024452496.1:c.2193A>C	XP_024308264.1:p.Glu731Asp
XR_001756009.2:n.5175A>C
XR_001756010.2:n.5143A>C
XR_001756011.2:n.5040A>C
XR_001756012.2:n.5188A>C
XR_001756013.2:n.4506A>C
XR_002958832.1:n.4760A>C
XR_002958834.1:n.4831A>C
XR_002958835.1:n.4714A>C
XR_002958836.1:n.5365A>C
XR_002958837.1:n.5172A>C
XR_244571.4:n.4692A>C
XR_430568.4:n.5211A>C
NM_001146706.2:c.4266A>C	NP_001140178.1:p.Glu1422Asp
NM_004653.5:c.4437A>C MANE Select	NP_004644.2:p.Glu1479Asp
NM_001146705.2:c.4530A>C	NP_001140177.1:p.Glu1510Asp