Canonical Allele Identifier: CA337439801

Gene: KDM5D

Linked Data

• dbSNP Id: rs751241980
• gnomAD v2: Y-21868037-G-T
• MyVariant Identifiers: chrY:g.21868037G>T (hg19) ; chrY:g.19706151G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706151G>T , CM000686.2:g.19706151G>T	GRCh38
NC_000024.9:g.21868037G>T , CM000686.1:g.21868037G>T	GRCh37
NC_000024.8:g.20327425G>T	NCBI36
NG_032920.1:g.43789C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4464C>A MANE Select	ENSP00000322408.4:p.Asp1488Glu
ENST00000317961.8:c.4464C>A	ENSP00000322408.4:p.Asp1488Glu
ENST00000382806.6:c.4293C>A	ENSP00000372256.2:p.Asp1431Glu
ENST00000440077.5:c.4341C>A	ENSP00000398543.1:p.Asp1447Glu
ENST00000469599.6:n.3215C>A
ENST00000492117.1:n.4509C>A
ENST00000541639.5:c.4557C>A	ENSP00000444293.1:p.Asp1519Glu
NM_001146705.1:c.4557C>A	NP_001140177.1:p.Asp1519Glu
NM_001146706.1:c.4293C>A	NP_001140178.1:p.Asp1431Glu
NM_004653.4:c.4464C>A	NP_004644.2:p.Asp1488Glu
XM_005262560.1:c.4329C>A	XP_005262617.1:p.Asp1443Glu
XM_005262561.1:c.4233C>A	XP_005262618.1:p.Asp1411Glu
XM_011531468.1:c.4386C>A	XP_011529770.1:p.Asp1462Glu
XR_430568.2:n.5239C>A
XM_005262560.3:c.4329C>A	XP_005262617.1:p.Asp1443Glu
XM_005262561.3:c.4233C>A	XP_005262618.1:p.Asp1411Glu
XM_011531468.3:c.4386C>A	XP_011529770.1:p.Asp1462Glu
XM_024452495.1:c.2454C>A	XP_024308263.1:p.Asp818Glu
XM_024452496.1:c.2220C>A	XP_024308264.1:p.Asp740Glu
XR_001756009.2:n.5202C>A
XR_001756010.2:n.5170C>A
XR_001756011.2:n.5067C>A
XR_001756012.2:n.5215C>A
XR_001756013.2:n.4533C>A
XR_002958832.1:n.4787C>A
XR_002958834.1:n.4858C>A
XR_002958835.1:n.4741C>A
XR_002958836.1:n.5392C>A
XR_002958837.1:n.5199C>A
XR_244571.4:n.4719C>A
XR_430568.4:n.5238C>A
NM_001146706.2:c.4293C>A	NP_001140178.1:p.Asp1431Glu
NM_004653.5:c.4464C>A MANE Select	NP_004644.2:p.Asp1488Glu
NM_001146705.2:c.4557C>A	NP_001140177.1:p.Asp1519Glu