Canonical Allele Identifier: CA520516779
Gene: KDM5D HGNC NCBI

Linked Data

MyVariant Identifiers: chrY:g.21869474A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707588A>G , CM000686.2:g.19707588A>G GRCh38
NC_000024.9:g.21869474A>G , CM000686.1:g.21869474A>G GRCh37
NC_000024.8:g.20328862A>G NCBI36
NG_032920.1:g.42352T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3558T>C MANE Select ENSP00000322408.4:p.Val1186=
ENST00000317961.8:c.3558T>C ENSP00000322408.4:p.Val1186=
ENST00000382806.6:c.3387T>C ENSP00000372256.2:p.Val1129=
ENST00000415360.1:c.474T>C ENSP00000389433.1:p.Val158=
ENST00000440077.5:c.3435T>C ENSP00000398543.1:p.Val1145=
ENST00000469599.6:n.2156T>C
ENST00000492117.1:n.3450T>C
ENST00000541639.5:c.3651T>C ENSP00000444293.1:p.Val1217=
NM_001146705.1:c.3651T>C NP_001140177.1:p.Val1217=
NM_001146706.1:c.3387T>C NP_001140178.1:p.Val1129=
NM_004653.4:c.3558T>C NP_004644.2:p.Val1186=
XM_005262560.1:c.3423T>C XP_005262617.1:p.Val1141=
XM_005262561.1:c.3327T>C XP_005262618.1:p.Val1109=
XM_011531468.1:c.3480T>C XP_011529770.1:p.Val1160=
XR_244571.2:n.3846T>C
XR_430568.2:n.4180T>C
XM_005262560.3:c.3423T>C XP_005262617.1:p.Val1141=
XM_005262561.3:c.3327T>C XP_005262618.1:p.Val1109=
XM_011531468.3:c.3480T>C XP_011529770.1:p.Val1160=
XM_024452495.1:c.1548T>C XP_024308263.1:p.Val516=
XM_024452496.1:c.1314T>C XP_024308264.1:p.Val438=
XR_001756009.2:n.4296T>C
XR_001756010.2:n.4296T>C
XR_001756011.2:n.4161T>C
XR_001756012.2:n.4309T>C
XR_001756013.2:n.3627T>C
XR_002958832.1:n.3728T>C
XR_002958834.1:n.3952T>C
XR_002958835.1:n.3835T>C
XR_002958836.1:n.4518T>C
XR_002958837.1:n.4325T>C
XR_244571.4:n.3845T>C
XR_430568.4:n.4179T>C
NM_001146706.2:c.3387T>C NP_001140178.1:p.Val1129=
NM_004653.5:c.3558T>C MANE Select NP_004644.2:p.Val1186=
NM_001146705.2:c.3651T>C NP_001140177.1:p.Val1217=