Canonical Allele Identifier: CA357152118

Gene: EPHA5

Linked Data

• ClinVar Variation Id: 2557527
• ClinVar RCV Id: RCV004325324
• MyVariant Identifiers: chr4:g.66213831C>T (hg19) ; chr4:g.65348113C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.65348113C>T , CM000666.2:g.65348113C>T	GRCh38
NC_000004.11:g.66213831C>T , CM000666.1:g.66213831C>T	GRCh37
NC_000004.10:g.65896426C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613740.5:c.2536G>A MANE Select	ENSP00000478537.1:p.Val846Ile
ENST00000273854.7:c.2599G>A	ENSP00000273854.3:p.Val867Ile
ENST00000354839.8:c.2533G>A	ENSP00000346899.4:p.Val845Ile
ENST00000432638.6:c.2110G>A	ENSP00000389208.2:p.Val704Ile
ENST00000511294.1:c.2602G>A	ENSP00000427638.1:p.Val868Ile
ENST00000613740.4:c.2536G>A	ENSP00000478537.1:p.Val846Ile
ENST00000622150.4:c.2602G>A	ENSP00000480763.1:p.Val868Ile
NM_001281765.1:c.2602G>A	NP_001268694.1:p.Val868Ile
NM_001281766.1:c.2536G>A	NP_001268695.1:p.Val846Ile
NM_001281767.1:c.2602G>A	NP_001268696.1:p.Val868Ile
NM_004439.6:c.2599G>A	NP_004430.4:p.Val867Ile
NM_182472.3:c.2533G>A	NP_872272.2:p.Val845Ile
XM_005265653.2:c.2110G>A	XP_005265710.1:p.Val704Ile
XM_011531733.1:c.2395G>A	XP_011530035.1:p.Val799Ile
XM_011531734.1:c.2395G>A	XP_011530036.1:p.Val799Ile
XM_011531735.1:c.2266G>A	XP_011530037.1:p.Val756Ile
NM_001281765.2:c.2602G>A	NP_001268694.1:p.Val868Ile
NM_001281766.2:c.2536G>A	NP_001268695.1:p.Val846Ile
NM_001281767.2:c.2602G>A	NP_001268696.1:p.Val868Ile
NM_001318761.1:c.2395G>A	NP_001305690.1:p.Val799Ile
NM_004439.7:c.2599G>A	NP_004430.4:p.Val867Ile
NM_182472.4:c.2533G>A	NP_872272.2:p.Val845Ile
XM_005265653.4:c.2110G>A	XP_005265710.1:p.Val704Ile
XM_011531735.3:c.2266G>A	XP_011530037.1:p.Val756Ile
XM_017007878.2:c.2200G>A	XP_016863367.1:p.Val734Ile
XM_017007879.2:c.2197G>A	XP_016863368.1:p.Val733Ile
XM_017007880.2:c.2044G>A	XP_016863369.1:p.Val682Ile
XM_017007881.2:c.2041G>A	XP_016863370.1:p.Val681Ile
NM_001281767.3:c.2602G>A	NP_001268696.1:p.Val868Ile
NM_004439.8:c.2599G>A	NP_004430.4:p.Val867Ile
NM_182472.5:c.2533G>A	NP_872272.2:p.Val845Ile
NM_001281765.3:c.2602G>A	NP_001268694.1:p.Val868Ile
NM_001281766.3:c.2536G>A MANE Select	NP_001268695.1:p.Val846Ile
NM_001318761.2:c.2395G>A	NP_001305690.1:p.Val799Ile