Canonical Allele Identifier: CA520516445
Gene: KDM5D HGNC NCBI

Linked Data

MyVariant Identifiers: chrY:g.21869318T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707432T>G , CM000686.2:g.19707432T>G GRCh38
NC_000024.9:g.21869318T>G , CM000686.1:g.21869318T>G GRCh37
NC_000024.8:g.20328706T>G NCBI36
NG_032920.1:g.42508A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3714A>C MANE Select ENSP00000322408.4:p.Arg1238=
ENST00000317961.8:c.3714A>C ENSP00000322408.4:p.Arg1238=
ENST00000382806.6:c.3543A>C ENSP00000372256.2:p.Arg1181=
ENST00000415360.1:c.630A>C ENSP00000389433.1:p.Arg210=
ENST00000440077.5:c.3591A>C ENSP00000398543.1:p.Arg1197=
ENST00000469599.6:n.2312A>C
ENST00000492117.1:n.3606A>C
ENST00000541639.5:c.3807A>C ENSP00000444293.1:p.Arg1269=
NM_001146705.1:c.3807A>C NP_001140177.1:p.Arg1269=
NM_001146706.1:c.3543A>C NP_001140178.1:p.Arg1181=
NM_004653.4:c.3714A>C NP_004644.2:p.Arg1238=
XM_005262560.1:c.3579A>C XP_005262617.1:p.Arg1193=
XM_005262561.1:c.3483A>C XP_005262618.1:p.Arg1161=
XM_011531468.1:c.3636A>C XP_011529770.1:p.Arg1212=
XR_244571.2:n.4002A>C
XR_430568.2:n.4336A>C
XM_005262560.3:c.3579A>C XP_005262617.1:p.Arg1193=
XM_005262561.3:c.3483A>C XP_005262618.1:p.Arg1161=
XM_011531468.3:c.3636A>C XP_011529770.1:p.Arg1212=
XM_024452495.1:c.1704A>C XP_024308263.1:p.Arg568=
XM_024452496.1:c.1470A>C XP_024308264.1:p.Arg490=
XR_001756009.2:n.4452A>C
XR_001756010.2:n.4452A>C
XR_001756011.2:n.4317A>C
XR_001756012.2:n.4465A>C
XR_001756013.2:n.3783A>C
XR_002958832.1:n.3884A>C
XR_002958834.1:n.4108A>C
XR_002958835.1:n.3991A>C
XR_002958836.1:n.4674A>C
XR_002958837.1:n.4481A>C
XR_244571.4:n.4001A>C
XR_430568.4:n.4335A>C
NM_001146706.2:c.3543A>C NP_001140178.1:p.Arg1181=
NM_004653.5:c.3714A>C MANE Select NP_004644.2:p.Arg1238=
NM_001146705.2:c.3807A>C NP_001140177.1:p.Arg1269=