Canonical Allele Identifier: CA520160816
Gene: KDM5D HGNC NCBI

Linked Data

MyVariant Identifiers: chrY:g.21869841G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707955G>A , CM000686.2:g.19707955G>A GRCh38
NC_000024.9:g.21869841G>A , CM000686.1:g.21869841G>A GRCh37
NC_000024.8:g.20329229G>A NCBI36
NG_032920.1:g.41985C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3378C>T MANE Select ENSP00000322408.4:p.Asp1126=
ENST00000317961.8:c.3378C>T ENSP00000322408.4:p.Asp1126=
ENST00000382806.6:c.3207C>T ENSP00000372256.2:p.Asp1069=
ENST00000415360.1:c.294C>T ENSP00000389433.1:p.Asp98=
ENST00000440077.5:c.3255C>T ENSP00000398543.1:p.Asp1085=
ENST00000469599.6:n.1976C>T
ENST00000492117.1:n.3270C>T
ENST00000541639.5:c.3471C>T ENSP00000444293.1:p.Asp1157=
NM_001146705.1:c.3471C>T NP_001140177.1:p.Asp1157=
NM_001146706.1:c.3207C>T NP_001140178.1:p.Asp1069=
NM_004653.4:c.3378C>T NP_004644.2:p.Asp1126=
XM_005262560.1:c.3243C>T XP_005262617.1:p.Asp1081=
XM_005262561.1:c.3147C>T XP_005262618.1:p.Asp1049=
XM_011531468.1:c.3300C>T XP_011529770.1:p.Asp1100=
XR_244571.2:n.3666C>T
XR_430568.2:n.4000C>T
XM_005262560.3:c.3243C>T XP_005262617.1:p.Asp1081=
XM_005262561.3:c.3147C>T XP_005262618.1:p.Asp1049=
XM_011531468.3:c.3300C>T XP_011529770.1:p.Asp1100=
XM_024452495.1:c.1368C>T XP_024308263.1:p.Asp456=
XM_024452496.1:c.1134C>T XP_024308264.1:p.Asp378=
XR_001756009.2:n.4116C>T
XR_001756010.2:n.4116C>T
XR_001756011.2:n.3981C>T
XR_001756012.2:n.4129C>T
XR_001756013.2:n.3447C>T
XR_002958832.1:n.3548C>T
XR_002958834.1:n.3772C>T
XR_002958835.1:n.3655C>T
XR_002958836.1:n.4338C>T
XR_002958837.1:n.4145C>T
XR_244571.4:n.3665C>T
XR_430568.4:n.3999C>T
NM_001146706.2:c.3207C>T NP_001140178.1:p.Asp1069=
NM_004653.5:c.3378C>T MANE Select NP_004644.2:p.Asp1126=
NM_001146705.2:c.3471C>T NP_001140177.1:p.Asp1157=