Canonical Allele Identifier: CA414840316

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868033C>T (hg19) ; chrY:g.19706147C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706147C>T , CM000686.2:g.19706147C>T	GRCh38
NC_000024.9:g.21868033C>T , CM000686.1:g.21868033C>T	GRCh37
NC_000024.8:g.20327421C>T	NCBI36
NG_032920.1:g.43793G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4468G>A MANE Select	ENSP00000322408.4:p.Glu1490Lys
ENST00000317961.8:c.4468G>A	ENSP00000322408.4:p.Glu1490Lys
ENST00000382806.6:c.4297G>A	ENSP00000372256.2:p.Glu1433Lys
ENST00000440077.5:c.4345G>A	ENSP00000398543.1:p.Glu1449Lys
ENST00000469599.6:n.3219G>A
ENST00000492117.1:n.4513G>A
ENST00000541639.5:c.4561G>A	ENSP00000444293.1:p.Glu1521Lys
NM_001146705.1:c.4561G>A	NP_001140177.1:p.Glu1521Lys
NM_001146706.1:c.4297G>A	NP_001140178.1:p.Glu1433Lys
NM_004653.4:c.4468G>A	NP_004644.2:p.Glu1490Lys
XM_005262560.1:c.4333G>A	XP_005262617.1:p.Glu1445Lys
XM_005262561.1:c.4237G>A	XP_005262618.1:p.Glu1413Lys
XM_011531468.1:c.4390G>A	XP_011529770.1:p.Glu1464Lys
XR_430568.2:n.5243G>A
XM_005262560.3:c.4333G>A	XP_005262617.1:p.Glu1445Lys
XM_005262561.3:c.4237G>A	XP_005262618.1:p.Glu1413Lys
XM_011531468.3:c.4390G>A	XP_011529770.1:p.Glu1464Lys
XM_024452495.1:c.2458G>A	XP_024308263.1:p.Glu820Lys
XM_024452496.1:c.2224G>A	XP_024308264.1:p.Glu742Lys
XR_001756009.2:n.5206G>A
XR_001756010.2:n.5174G>A
XR_001756011.2:n.5071G>A
XR_001756012.2:n.5219G>A
XR_001756013.2:n.4537G>A
XR_002958832.1:n.4791G>A
XR_002958834.1:n.4862G>A
XR_002958835.1:n.4745G>A
XR_002958836.1:n.5396G>A
XR_002958837.1:n.5203G>A
XR_244571.4:n.4723G>A
XR_430568.4:n.5242G>A
NM_001146706.2:c.4297G>A	NP_001140178.1:p.Glu1433Lys
NM_004653.5:c.4468G>A MANE Select	NP_004644.2:p.Glu1490Lys
NM_001146705.2:c.4561G>A	NP_001140177.1:p.Glu1521Lys