Canonical Allele Identifier: CA520516518
Gene: KDM5D HGNC NCBI

Linked Data

MyVariant Identifiers: chrY:g.21869378T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707492T>A , CM000686.2:g.19707492T>A GRCh38
NC_000024.9:g.21869378T>A , CM000686.1:g.21869378T>A GRCh37
NC_000024.8:g.20328766T>A NCBI36
NG_032920.1:g.42448A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3654A>T MANE Select ENSP00000322408.4:p.Pro1218=
ENST00000317961.8:c.3654A>T ENSP00000322408.4:p.Pro1218=
ENST00000382806.6:c.3483A>T ENSP00000372256.2:p.Pro1161=
ENST00000415360.1:c.570A>T ENSP00000389433.1:p.Pro190=
ENST00000440077.5:c.3531A>T ENSP00000398543.1:p.Pro1177=
ENST00000469599.6:n.2252A>T
ENST00000492117.1:n.3546A>T
ENST00000541639.5:c.3747A>T ENSP00000444293.1:p.Pro1249=
NM_001146705.1:c.3747A>T NP_001140177.1:p.Pro1249=
NM_001146706.1:c.3483A>T NP_001140178.1:p.Pro1161=
NM_004653.4:c.3654A>T NP_004644.2:p.Pro1218=
XM_005262560.1:c.3519A>T XP_005262617.1:p.Pro1173=
XM_005262561.1:c.3423A>T XP_005262618.1:p.Pro1141=
XM_011531468.1:c.3576A>T XP_011529770.1:p.Pro1192=
XR_244571.2:n.3942A>T
XR_430568.2:n.4276A>T
XM_005262560.3:c.3519A>T XP_005262617.1:p.Pro1173=
XM_005262561.3:c.3423A>T XP_005262618.1:p.Pro1141=
XM_011531468.3:c.3576A>T XP_011529770.1:p.Pro1192=
XM_024452495.1:c.1644A>T XP_024308263.1:p.Pro548=
XM_024452496.1:c.1410A>T XP_024308264.1:p.Pro470=
XR_001756009.2:n.4392A>T
XR_001756010.2:n.4392A>T
XR_001756011.2:n.4257A>T
XR_001756012.2:n.4405A>T
XR_001756013.2:n.3723A>T
XR_002958832.1:n.3824A>T
XR_002958834.1:n.4048A>T
XR_002958835.1:n.3931A>T
XR_002958836.1:n.4614A>T
XR_002958837.1:n.4421A>T
XR_244571.4:n.3941A>T
XR_430568.4:n.4275A>T
NM_001146706.2:c.3483A>T NP_001140178.1:p.Pro1161=
NM_004653.5:c.3654A>T MANE Select NP_004644.2:p.Pro1218=
NM_001146705.2:c.3747A>T NP_001140177.1:p.Pro1249=