Canonical Allele Identifier: CA520159271
Gene: KDM5D HGNC NCBI

Linked Data

MyVariant Identifiers: chrY:g.21867926T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706040T>C , CM000686.2:g.19706040T>C GRCh38
NC_000024.9:g.21867926T>C , CM000686.1:g.21867926T>C GRCh37
NC_000024.8:g.20327314T>C NCBI36
NG_032920.1:g.43900A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4575A>G MANE Select ENSP00000322408.4:p.Leu1525=
ENST00000317961.8:c.4575A>G ENSP00000322408.4:p.Leu1525=
ENST00000382806.6:c.4404A>G ENSP00000372256.2:p.Leu1468=
ENST00000469599.6:n.3326A>G
ENST00000492117.1:n.4620A>G
ENST00000541639.5:c.4668A>G ENSP00000444293.1:p.Leu1556=
NM_001146705.1:c.4668A>G NP_001140177.1:p.Leu1556=
NM_001146706.1:c.4404A>G NP_001140178.1:p.Leu1468=
NM_004653.4:c.4575A>G NP_004644.2:p.Leu1525=
XM_005262560.1:c.4440A>G XP_005262617.1:p.Leu1480=
XM_005262561.1:c.4344A>G XP_005262618.1:p.Leu1448=
XM_011531468.1:c.4497A>G XP_011529770.1:p.Leu1499=
XR_430568.2:n.5350A>G
XM_005262560.3:c.4440A>G XP_005262617.1:p.Leu1480=
XM_005262561.3:c.4344A>G XP_005262618.1:p.Leu1448=
XM_011531468.3:c.4497A>G XP_011529770.1:p.Leu1499=
XM_024452495.1:c.2565A>G XP_024308263.1:p.Leu855=
XM_024452496.1:c.2331A>G XP_024308264.1:p.Leu777=
XR_001756009.2:n.5313A>G
XR_001756010.2:n.5281A>G
XR_001756011.2:n.5178A>G
XR_001756012.2:n.5326A>G
XR_001756013.2:n.4644A>G
XR_002958832.1:n.4898A>G
XR_002958834.1:n.4969A>G
XR_002958835.1:n.4852A>G
XR_002958836.1:n.5503A>G
XR_002958837.1:n.5310A>G
XR_244571.4:n.4830A>G
XR_430568.4:n.5349A>G
NM_001146706.2:c.4404A>G NP_001140178.1:p.Leu1468=
NM_004653.5:c.4575A>G MANE Select NP_004644.2:p.Leu1525=
NM_001146705.2:c.4668A>G NP_001140177.1:p.Leu1556=