Canonical Allele Identifier: CA414840256

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868020A>T (hg19) ; chrY:g.19706134A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706134A>T , CM000686.2:g.19706134A>T	GRCh38
NC_000024.9:g.21868020A>T , CM000686.1:g.21868020A>T	GRCh37
NC_000024.8:g.20327408A>T	NCBI36
NG_032920.1:g.43806T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4481T>A MANE Select	ENSP00000322408.4:p.Leu1494Gln
ENST00000317961.8:c.4481T>A	ENSP00000322408.4:p.Leu1494Gln
ENST00000382806.6:c.4310T>A	ENSP00000372256.2:p.Leu1437Gln
ENST00000440077.5:c.4358T>A	ENSP00000398543.1:p.Leu1453Gln
ENST00000469599.6:n.3232T>A
ENST00000492117.1:n.4526T>A
ENST00000541639.5:c.4574T>A	ENSP00000444293.1:p.Leu1525Gln
NM_001146705.1:c.4574T>A	NP_001140177.1:p.Leu1525Gln
NM_001146706.1:c.4310T>A	NP_001140178.1:p.Leu1437Gln
NM_004653.4:c.4481T>A	NP_004644.2:p.Leu1494Gln
XM_005262560.1:c.4346T>A	XP_005262617.1:p.Leu1449Gln
XM_005262561.1:c.4250T>A	XP_005262618.1:p.Leu1417Gln
XM_011531468.1:c.4403T>A	XP_011529770.1:p.Leu1468Gln
XR_430568.2:n.5256T>A
XM_005262560.3:c.4346T>A	XP_005262617.1:p.Leu1449Gln
XM_005262561.3:c.4250T>A	XP_005262618.1:p.Leu1417Gln
XM_011531468.3:c.4403T>A	XP_011529770.1:p.Leu1468Gln
XM_024452495.1:c.2471T>A	XP_024308263.1:p.Leu824Gln
XM_024452496.1:c.2237T>A	XP_024308264.1:p.Leu746Gln
XR_001756009.2:n.5219T>A
XR_001756010.2:n.5187T>A
XR_001756011.2:n.5084T>A
XR_001756012.2:n.5232T>A
XR_001756013.2:n.4550T>A
XR_002958832.1:n.4804T>A
XR_002958834.1:n.4875T>A
XR_002958835.1:n.4758T>A
XR_002958836.1:n.5409T>A
XR_002958837.1:n.5216T>A
XR_244571.4:n.4736T>A
XR_430568.4:n.5255T>A
NM_001146706.2:c.4310T>A	NP_001140178.1:p.Leu1437Gln
NM_004653.5:c.4481T>A MANE Select	NP_004644.2:p.Leu1494Gln
NM_001146705.2:c.4574T>A	NP_001140177.1:p.Leu1525Gln