Canonical Allele Identifier: CA520516633
Gene: KDM5D HGNC NCBI

Linked Data

MyVariant Identifiers: chrY:g.21869426T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707540T>G , CM000686.2:g.19707540T>G GRCh38
NC_000024.9:g.21869426T>G , CM000686.1:g.21869426T>G GRCh37
NC_000024.8:g.20328814T>G NCBI36
NG_032920.1:g.42400A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3606A>C MANE Select ENSP00000322408.4:p.Ser1202=
ENST00000317961.8:c.3606A>C ENSP00000322408.4:p.Ser1202=
ENST00000382806.6:c.3435A>C ENSP00000372256.2:p.Ser1145=
ENST00000415360.1:c.522A>C ENSP00000389433.1:p.Ser174=
ENST00000440077.5:c.3483A>C ENSP00000398543.1:p.Ser1161=
ENST00000469599.6:n.2204A>C
ENST00000492117.1:n.3498A>C
ENST00000541639.5:c.3699A>C ENSP00000444293.1:p.Ser1233=
NM_001146705.1:c.3699A>C NP_001140177.1:p.Ser1233=
NM_001146706.1:c.3435A>C NP_001140178.1:p.Ser1145=
NM_004653.4:c.3606A>C NP_004644.2:p.Ser1202=
XM_005262560.1:c.3471A>C XP_005262617.1:p.Ser1157=
XM_005262561.1:c.3375A>C XP_005262618.1:p.Ser1125=
XM_011531468.1:c.3528A>C XP_011529770.1:p.Ser1176=
XR_244571.2:n.3894A>C
XR_430568.2:n.4228A>C
XM_005262560.3:c.3471A>C XP_005262617.1:p.Ser1157=
XM_005262561.3:c.3375A>C XP_005262618.1:p.Ser1125=
XM_011531468.3:c.3528A>C XP_011529770.1:p.Ser1176=
XM_024452495.1:c.1596A>C XP_024308263.1:p.Ser532=
XM_024452496.1:c.1362A>C XP_024308264.1:p.Ser454=
XR_001756009.2:n.4344A>C
XR_001756010.2:n.4344A>C
XR_001756011.2:n.4209A>C
XR_001756012.2:n.4357A>C
XR_001756013.2:n.3675A>C
XR_002958832.1:n.3776A>C
XR_002958834.1:n.4000A>C
XR_002958835.1:n.3883A>C
XR_002958836.1:n.4566A>C
XR_002958837.1:n.4373A>C
XR_244571.4:n.3893A>C
XR_430568.4:n.4227A>C
NM_001146706.2:c.3435A>C NP_001140178.1:p.Ser1145=
NM_004653.5:c.3606A>C MANE Select NP_004644.2:p.Ser1202=
NM_001146705.2:c.3699A>C NP_001140177.1:p.Ser1233=