Canonical Allele Identifier: CA520159935
Gene: KDM5D HGNC NCBI

Linked Data

MyVariant Identifiers: chrY:g.21868696A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706810A>G , CM000686.2:g.19706810A>G GRCh38
NC_000024.9:g.21868696A>G , CM000686.1:g.21868696A>G GRCh37
NC_000024.8:g.20328084A>G NCBI36
NG_032920.1:g.43130T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4053T>C MANE Select ENSP00000322408.4:p.Ala1351=
ENST00000317961.8:c.4053T>C ENSP00000322408.4:p.Ala1351=
ENST00000382806.6:c.3882T>C ENSP00000372256.2:p.Ala1294=
ENST00000440077.5:c.3930T>C ENSP00000398543.1:p.Ala1310=
ENST00000469599.6:n.2651T>C
ENST00000492117.1:n.3945T>C
ENST00000541639.5:c.4146T>C ENSP00000444293.1:p.Ala1382=
NM_001146705.1:c.4146T>C NP_001140177.1:p.Ala1382=
NM_001146706.1:c.3882T>C NP_001140178.1:p.Ala1294=
NM_004653.4:c.4053T>C NP_004644.2:p.Ala1351=
XM_005262560.1:c.3918T>C XP_005262617.1:p.Ala1306=
XM_005262561.1:c.3822T>C XP_005262618.1:p.Ala1274=
XM_011531468.1:c.3975T>C XP_011529770.1:p.Ala1325=
XR_244571.2:n.4341T>C
XR_430568.2:n.4675T>C
XM_005262560.3:c.3918T>C XP_005262617.1:p.Ala1306=
XM_005262561.3:c.3822T>C XP_005262618.1:p.Ala1274=
XM_011531468.3:c.3975T>C XP_011529770.1:p.Ala1325=
XM_024452495.1:c.2043T>C XP_024308263.1:p.Ala681=
XM_024452496.1:c.1809T>C XP_024308264.1:p.Ala603=
XR_001756009.2:n.4791T>C
XR_001756010.2:n.4791T>C
XR_001756011.2:n.4656T>C
XR_001756012.2:n.4804T>C
XR_001756013.2:n.4122T>C
XR_002958832.1:n.4223T>C
XR_002958834.1:n.4447T>C
XR_002958835.1:n.4330T>C
XR_002958836.1:n.5013T>C
XR_002958837.1:n.4820T>C
XR_244571.4:n.4340T>C
XR_430568.4:n.4674T>C
NM_001146706.2:c.3882T>C NP_001140178.1:p.Ala1294=
NM_004653.5:c.4053T>C MANE Select NP_004644.2:p.Ala1351=
NM_001146705.2:c.4146T>C NP_001140177.1:p.Ala1382=