Canonical Allele Identifier: CA520516474
Gene: KDM5D HGNC NCBI

Linked Data

MyVariant Identifiers: chrY:g.21869351T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707465T>G , CM000686.2:g.19707465T>G GRCh38
NC_000024.9:g.21869351T>G , CM000686.1:g.21869351T>G GRCh37
NC_000024.8:g.20328739T>G NCBI36
NG_032920.1:g.42475A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3681A>C MANE Select ENSP00000322408.4:p.Thr1227=
ENST00000317961.8:c.3681A>C ENSP00000322408.4:p.Thr1227=
ENST00000382806.6:c.3510A>C ENSP00000372256.2:p.Thr1170=
ENST00000415360.1:c.597A>C ENSP00000389433.1:p.Thr199=
ENST00000440077.5:c.3558A>C ENSP00000398543.1:p.Thr1186=
ENST00000469599.6:n.2279A>C
ENST00000492117.1:n.3573A>C
ENST00000541639.5:c.3774A>C ENSP00000444293.1:p.Thr1258=
NM_001146705.1:c.3774A>C NP_001140177.1:p.Thr1258=
NM_001146706.1:c.3510A>C NP_001140178.1:p.Thr1170=
NM_004653.4:c.3681A>C NP_004644.2:p.Thr1227=
XM_005262560.1:c.3546A>C XP_005262617.1:p.Thr1182=
XM_005262561.1:c.3450A>C XP_005262618.1:p.Thr1150=
XM_011531468.1:c.3603A>C XP_011529770.1:p.Thr1201=
XR_244571.2:n.3969A>C
XR_430568.2:n.4303A>C
XM_005262560.3:c.3546A>C XP_005262617.1:p.Thr1182=
XM_005262561.3:c.3450A>C XP_005262618.1:p.Thr1150=
XM_011531468.3:c.3603A>C XP_011529770.1:p.Thr1201=
XM_024452495.1:c.1671A>C XP_024308263.1:p.Thr557=
XM_024452496.1:c.1437A>C XP_024308264.1:p.Thr479=
XR_001756009.2:n.4419A>C
XR_001756010.2:n.4419A>C
XR_001756011.2:n.4284A>C
XR_001756012.2:n.4432A>C
XR_001756013.2:n.3750A>C
XR_002958832.1:n.3851A>C
XR_002958834.1:n.4075A>C
XR_002958835.1:n.3958A>C
XR_002958836.1:n.4641A>C
XR_002958837.1:n.4448A>C
XR_244571.4:n.3968A>C
XR_430568.4:n.4302A>C
NM_001146706.2:c.3510A>C NP_001140178.1:p.Thr1170=
NM_004653.5:c.3681A>C MANE Select NP_004644.2:p.Thr1227=
NM_001146705.2:c.3774A>C NP_001140177.1:p.Thr1258=