Canonical Allele Identifier: CA520516473
Gene: KDM5D HGNC NCBI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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