Canonical Allele Identifier: CA520516829
Gene: KDM5D HGNC NCBI

Linked Data

MyVariant Identifiers: chrY:g.21869492C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707606C>G , CM000686.2:g.19707606C>G GRCh38
NC_000024.9:g.21869492C>G , CM000686.1:g.21869492C>G GRCh37
NC_000024.8:g.20328880C>G NCBI36
NG_032920.1:g.42334G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3540G>C MANE Select ENSP00000322408.4:p.Val1180=
ENST00000317961.8:c.3540G>C ENSP00000322408.4:p.Val1180=
ENST00000382806.6:c.3369G>C ENSP00000372256.2:p.Val1123=
ENST00000415360.1:c.456G>C ENSP00000389433.1:p.Val152=
ENST00000440077.5:c.3417G>C ENSP00000398543.1:p.Val1139=
ENST00000469599.6:n.2138G>C
ENST00000492117.1:n.3432G>C
ENST00000541639.5:c.3633G>C ENSP00000444293.1:p.Val1211=
NM_001146705.1:c.3633G>C NP_001140177.1:p.Val1211=
NM_001146706.1:c.3369G>C NP_001140178.1:p.Val1123=
NM_004653.4:c.3540G>C NP_004644.2:p.Val1180=
XM_005262560.1:c.3405G>C XP_005262617.1:p.Val1135=
XM_005262561.1:c.3309G>C XP_005262618.1:p.Val1103=
XM_011531468.1:c.3462G>C XP_011529770.1:p.Val1154=
XR_244571.2:n.3828G>C
XR_430568.2:n.4162G>C
XM_005262560.3:c.3405G>C XP_005262617.1:p.Val1135=
XM_005262561.3:c.3309G>C XP_005262618.1:p.Val1103=
XM_011531468.3:c.3462G>C XP_011529770.1:p.Val1154=
XM_024452495.1:c.1530G>C XP_024308263.1:p.Val510=
XM_024452496.1:c.1296G>C XP_024308264.1:p.Val432=
XR_001756009.2:n.4278G>C
XR_001756010.2:n.4278G>C
XR_001756011.2:n.4143G>C
XR_001756012.2:n.4291G>C
XR_001756013.2:n.3609G>C
XR_002958832.1:n.3710G>C
XR_002958834.1:n.3934G>C
XR_002958835.1:n.3817G>C
XR_002958836.1:n.4500G>C
XR_002958837.1:n.4307G>C
XR_244571.4:n.3827G>C
XR_430568.4:n.4161G>C
NM_001146706.2:c.3369G>C NP_001140178.1:p.Val1123=
NM_004653.5:c.3540G>C MANE Select NP_004644.2:p.Val1180=
NM_001146705.2:c.3633G>C NP_001140177.1:p.Val1211=