Canonical Allele Identifier: CA10574662

Gene: KDM5D

Linked Data

• dbSNP Id: rs763157175
• ExAC: Y:21868035 C / T
• gnomAD v2: Y-21868035-C-T
• MyVariant Identifiers: chrY:g.21868035C>T (hg19) ; chrY:g.19706149C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706149C>T , CM000686.2:g.19706149C>T	GRCh38
NC_000024.9:g.21868035C>T , CM000686.1:g.21868035C>T	GRCh37
NC_000024.8:g.20327423C>T	NCBI36
NG_032920.1:g.43791G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4466G>A MANE Select	ENSP00000322408.4:p.Arg1489His
ENST00000317961.8:c.4466G>A	ENSP00000322408.4:p.Arg1489His
ENST00000382806.6:c.4295G>A	ENSP00000372256.2:p.Arg1432His
ENST00000440077.5:c.4343G>A	ENSP00000398543.1:p.Arg1448His
ENST00000469599.6:n.3217G>A
ENST00000492117.1:n.4511G>A
ENST00000541639.5:c.4559G>A	ENSP00000444293.1:p.Arg1520His
NM_001146705.1:c.4559G>A	NP_001140177.1:p.Arg1520His
NM_001146706.1:c.4295G>A	NP_001140178.1:p.Arg1432His
NM_004653.4:c.4466G>A	NP_004644.2:p.Arg1489His
XM_005262560.1:c.4331G>A	XP_005262617.1:p.Arg1444His
XM_005262561.1:c.4235G>A	XP_005262618.1:p.Arg1412His
XM_011531468.1:c.4388G>A	XP_011529770.1:p.Arg1463His
XR_430568.2:n.5241G>A
XM_005262560.3:c.4331G>A	XP_005262617.1:p.Arg1444His
XM_005262561.3:c.4235G>A	XP_005262618.1:p.Arg1412His
XM_011531468.3:c.4388G>A	XP_011529770.1:p.Arg1463His
XM_024452495.1:c.2456G>A	XP_024308263.1:p.Arg819His
XM_024452496.1:c.2222G>A	XP_024308264.1:p.Arg741His
XR_001756009.2:n.5204G>A
XR_001756010.2:n.5172G>A
XR_001756011.2:n.5069G>A
XR_001756012.2:n.5217G>A
XR_001756013.2:n.4535G>A
XR_002958832.1:n.4789G>A
XR_002958834.1:n.4860G>A
XR_002958835.1:n.4743G>A
XR_002958836.1:n.5394G>A
XR_002958837.1:n.5201G>A
XR_244571.4:n.4721G>A
XR_430568.4:n.5240G>A
NM_001146706.2:c.4295G>A	NP_001140178.1:p.Arg1432His
NM_004653.5:c.4466G>A MANE Select	NP_004644.2:p.Arg1489His
NM_001146705.2:c.4559G>A	NP_001140177.1:p.Arg1520His