Canonical Allele Identifier: CA520516588
Gene: KDM5D HGNC NCBI

Linked Data

MyVariant Identifiers: chrY:g.21869408G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707522G>C , CM000686.2:g.19707522G>C GRCh38
NC_000024.9:g.21869408G>C , CM000686.1:g.21869408G>C GRCh37
NC_000024.8:g.20328796G>C NCBI36
NG_032920.1:g.42418C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3624C>G MANE Select ENSP00000322408.4:p.Thr1208=
ENST00000317961.8:c.3624C>G ENSP00000322408.4:p.Thr1208=
ENST00000382806.6:c.3453C>G ENSP00000372256.2:p.Thr1151=
ENST00000415360.1:c.540C>G ENSP00000389433.1:p.Thr180=
ENST00000440077.5:c.3501C>G ENSP00000398543.1:p.Thr1167=
ENST00000469599.6:n.2222C>G
ENST00000492117.1:n.3516C>G
ENST00000541639.5:c.3717C>G ENSP00000444293.1:p.Thr1239=
NM_001146705.1:c.3717C>G NP_001140177.1:p.Thr1239=
NM_001146706.1:c.3453C>G NP_001140178.1:p.Thr1151=
NM_004653.4:c.3624C>G NP_004644.2:p.Thr1208=
XM_005262560.1:c.3489C>G XP_005262617.1:p.Thr1163=
XM_005262561.1:c.3393C>G XP_005262618.1:p.Thr1131=
XM_011531468.1:c.3546C>G XP_011529770.1:p.Thr1182=
XR_244571.2:n.3912C>G
XR_430568.2:n.4246C>G
XM_005262560.3:c.3489C>G XP_005262617.1:p.Thr1163=
XM_005262561.3:c.3393C>G XP_005262618.1:p.Thr1131=
XM_011531468.3:c.3546C>G XP_011529770.1:p.Thr1182=
XM_024452495.1:c.1614C>G XP_024308263.1:p.Thr538=
XM_024452496.1:c.1380C>G XP_024308264.1:p.Thr460=
XR_001756009.2:n.4362C>G
XR_001756010.2:n.4362C>G
XR_001756011.2:n.4227C>G
XR_001756012.2:n.4375C>G
XR_001756013.2:n.3693C>G
XR_002958832.1:n.3794C>G
XR_002958834.1:n.4018C>G
XR_002958835.1:n.3901C>G
XR_002958836.1:n.4584C>G
XR_002958837.1:n.4391C>G
XR_244571.4:n.3911C>G
XR_430568.4:n.4245C>G
NM_001146706.2:c.3453C>G NP_001140178.1:p.Thr1151=
NM_004653.5:c.3624C>G MANE Select NP_004644.2:p.Thr1208=
NM_001146705.2:c.3717C>G NP_001140177.1:p.Thr1239=