Canonical Allele Identifier: CA520160005
Gene: KDM5D HGNC NCBI

Linked Data

MyVariant Identifiers: chrY:g.21868711A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706825A>G , CM000686.2:g.19706825A>G GRCh38
NC_000024.9:g.21868711A>G , CM000686.1:g.21868711A>G GRCh37
NC_000024.8:g.20328099A>G NCBI36
NG_032920.1:g.43115T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4038T>C MANE Select ENSP00000322408.4:p.Ser1346=
ENST00000317961.8:c.4038T>C ENSP00000322408.4:p.Ser1346=
ENST00000382806.6:c.3867T>C ENSP00000372256.2:p.Ser1289=
ENST00000440077.5:c.3915T>C ENSP00000398543.1:p.Ser1305=
ENST00000469599.6:n.2636T>C
ENST00000492117.1:n.3930T>C
ENST00000541639.5:c.4131T>C ENSP00000444293.1:p.Ser1377=
NM_001146705.1:c.4131T>C NP_001140177.1:p.Ser1377=
NM_001146706.1:c.3867T>C NP_001140178.1:p.Ser1289=
NM_004653.4:c.4038T>C NP_004644.2:p.Ser1346=
XM_005262560.1:c.3903T>C XP_005262617.1:p.Ser1301=
XM_005262561.1:c.3807T>C XP_005262618.1:p.Ser1269=
XM_011531468.1:c.3960T>C XP_011529770.1:p.Ser1320=
XR_244571.2:n.4326T>C
XR_430568.2:n.4660T>C
XM_005262560.3:c.3903T>C XP_005262617.1:p.Ser1301=
XM_005262561.3:c.3807T>C XP_005262618.1:p.Ser1269=
XM_011531468.3:c.3960T>C XP_011529770.1:p.Ser1320=
XM_024452495.1:c.2028T>C XP_024308263.1:p.Ser676=
XM_024452496.1:c.1794T>C XP_024308264.1:p.Ser598=
XR_001756009.2:n.4776T>C
XR_001756010.2:n.4776T>C
XR_001756011.2:n.4641T>C
XR_001756012.2:n.4789T>C
XR_001756013.2:n.4107T>C
XR_002958832.1:n.4208T>C
XR_002958834.1:n.4432T>C
XR_002958835.1:n.4315T>C
XR_002958836.1:n.4998T>C
XR_002958837.1:n.4805T>C
XR_244571.4:n.4325T>C
XR_430568.4:n.4659T>C
NM_001146706.2:c.3867T>C NP_001140178.1:p.Ser1289=
NM_004653.5:c.4038T>C MANE Select NP_004644.2:p.Ser1346=
NM_001146705.2:c.4131T>C NP_001140177.1:p.Ser1377=