Canonical Allele Identifier: CA520514688
Gene: KDM5D HGNC NCBI

Linked Data

MyVariant Identifiers: chrY:g.21868022G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706136G>A , CM000686.2:g.19706136G>A GRCh38
NC_000024.9:g.21868022G>A , CM000686.1:g.21868022G>A GRCh37
NC_000024.8:g.20327410G>A NCBI36
NG_032920.1:g.43804C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4479C>T MANE Select ENSP00000322408.4:p.Phe1493=
ENST00000317961.8:c.4479C>T ENSP00000322408.4:p.Phe1493=
ENST00000382806.6:c.4308C>T ENSP00000372256.2:p.Phe1436=
ENST00000440077.5:c.4356C>T ENSP00000398543.1:p.Phe1452=
ENST00000469599.6:n.3230C>T
ENST00000492117.1:n.4524C>T
ENST00000541639.5:c.4572C>T ENSP00000444293.1:p.Phe1524=
NM_001146705.1:c.4572C>T NP_001140177.1:p.Phe1524=
NM_001146706.1:c.4308C>T NP_001140178.1:p.Phe1436=
NM_004653.4:c.4479C>T NP_004644.2:p.Phe1493=
XM_005262560.1:c.4344C>T XP_005262617.1:p.Phe1448=
XM_005262561.1:c.4248C>T XP_005262618.1:p.Phe1416=
XM_011531468.1:c.4401C>T XP_011529770.1:p.Phe1467=
XR_430568.2:n.5254C>T
XM_005262560.3:c.4344C>T XP_005262617.1:p.Phe1448=
XM_005262561.3:c.4248C>T XP_005262618.1:p.Phe1416=
XM_011531468.3:c.4401C>T XP_011529770.1:p.Phe1467=
XM_024452495.1:c.2469C>T XP_024308263.1:p.Phe823=
XM_024452496.1:c.2235C>T XP_024308264.1:p.Phe745=
XR_001756009.2:n.5217C>T
XR_001756010.2:n.5185C>T
XR_001756011.2:n.5082C>T
XR_001756012.2:n.5230C>T
XR_001756013.2:n.4548C>T
XR_002958832.1:n.4802C>T
XR_002958834.1:n.4873C>T
XR_002958835.1:n.4756C>T
XR_002958836.1:n.5407C>T
XR_002958837.1:n.5214C>T
XR_244571.4:n.4734C>T
XR_430568.4:n.5253C>T
NM_001146706.2:c.4308C>T NP_001140178.1:p.Phe1436=
NM_004653.5:c.4479C>T MANE Select NP_004644.2:p.Phe1493=
NM_001146705.2:c.4572C>T NP_001140177.1:p.Phe1524=