Canonical Allele Identifier: CA414840313

Gene: KDM5D

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4468G>T MANE Select	ENSP00000322408.4:p.Glu1490Ter
ENST00000317961.8:c.4468G>T	ENSP00000322408.4:p.Glu1490Ter
ENST00000382806.6:c.4297G>T	ENSP00000372256.2:p.Glu1433Ter
ENST00000440077.5:c.4345G>T	ENSP00000398543.1:p.Glu1449Ter
ENST00000469599.6:n.3219G>T
ENST00000492117.1:n.4513G>T
ENST00000541639.5:c.4561G>T	ENSP00000444293.1:p.Glu1521Ter
NM_001146705.1:c.4561G>T	NP_001140177.1:p.Glu1521Ter
NM_001146706.1:c.4297G>T	NP_001140178.1:p.Glu1433Ter
NM_004653.4:c.4468G>T	NP_004644.2:p.Glu1490Ter
XM_005262560.1:c.4333G>T	XP_005262617.1:p.Glu1445Ter
XM_005262561.1:c.4237G>T	XP_005262618.1:p.Glu1413Ter
XM_011531468.1:c.4390G>T	XP_011529770.1:p.Glu1464Ter
XR_430568.2:n.5243G>T
XM_005262560.3:c.4333G>T	XP_005262617.1:p.Glu1445Ter
XM_005262561.3:c.4237G>T	XP_005262618.1:p.Glu1413Ter
XM_011531468.3:c.4390G>T	XP_011529770.1:p.Glu1464Ter
XM_024452495.1:c.2458G>T	XP_024308263.1:p.Glu820Ter
XM_024452496.1:c.2224G>T	XP_024308264.1:p.Glu742Ter
XR_001756009.2:n.5206G>T
XR_001756010.2:n.5174G>T
XR_001756011.2:n.5071G>T
XR_001756012.2:n.5219G>T
XR_001756013.2:n.4537G>T
XR_002958832.1:n.4791G>T
XR_002958834.1:n.4862G>T
XR_002958835.1:n.4745G>T
XR_002958836.1:n.5396G>T
XR_002958837.1:n.5203G>T
XR_244571.4:n.4723G>T
XR_430568.4:n.5242G>T
NM_001146706.2:c.4297G>T	NP_001140178.1:p.Glu1433Ter
NM_004653.5:c.4468G>T MANE Select	NP_004644.2:p.Glu1490Ter
NM_001146705.2:c.4561G>T	NP_001140177.1:p.Glu1521Ter