Canonical Allele Identifier: CA520159337
Gene: KDM5D HGNC NCBI

Linked Data

MyVariant Identifiers: chrY:g.21867947A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706061A>C , CM000686.2:g.19706061A>C GRCh38
NC_000024.9:g.21867947A>C , CM000686.1:g.21867947A>C GRCh37
NC_000024.8:g.20327335A>C NCBI36
NG_032920.1:g.43879T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4554T>G MANE Select ENSP00000322408.4:p.Ser1518=
ENST00000317961.8:c.4554T>G ENSP00000322408.4:p.Ser1518=
ENST00000382806.6:c.4383T>G ENSP00000372256.2:p.Ser1461=
ENST00000469599.6:n.3305T>G
ENST00000492117.1:n.4599T>G
ENST00000541639.5:c.4647T>G ENSP00000444293.1:p.Ser1549=
NM_001146705.1:c.4647T>G NP_001140177.1:p.Ser1549=
NM_001146706.1:c.4383T>G NP_001140178.1:p.Ser1461=
NM_004653.4:c.4554T>G NP_004644.2:p.Ser1518=
XM_005262560.1:c.4419T>G XP_005262617.1:p.Ser1473=
XM_005262561.1:c.4323T>G XP_005262618.1:p.Ser1441=
XM_011531468.1:c.4476T>G XP_011529770.1:p.Ser1492=
XR_430568.2:n.5329T>G
XM_005262560.3:c.4419T>G XP_005262617.1:p.Ser1473=
XM_005262561.3:c.4323T>G XP_005262618.1:p.Ser1441=
XM_011531468.3:c.4476T>G XP_011529770.1:p.Ser1492=
XM_024452495.1:c.2544T>G XP_024308263.1:p.Ser848=
XM_024452496.1:c.2310T>G XP_024308264.1:p.Ser770=
XR_001756009.2:n.5292T>G
XR_001756010.2:n.5260T>G
XR_001756011.2:n.5157T>G
XR_001756012.2:n.5305T>G
XR_001756013.2:n.4623T>G
XR_002958832.1:n.4877T>G
XR_002958834.1:n.4948T>G
XR_002958835.1:n.4831T>G
XR_002958836.1:n.5482T>G
XR_002958837.1:n.5289T>G
XR_244571.4:n.4809T>G
XR_430568.4:n.5328T>G
NM_001146706.2:c.4383T>G NP_001140178.1:p.Ser1461=
NM_004653.5:c.4554T>G MANE Select NP_004644.2:p.Ser1518=
NM_001146705.2:c.4647T>G NP_001140177.1:p.Ser1549=