Canonical Allele Identifier: CA374983441
Community Standard Title: NM_001114753.3(ENG):c.707T>A (p.Val236Glu)
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127825340A>T , CM000671.2:g.127825340A>T GRCh38
NC_000009.11:g.130587619A>T , CM000671.1:g.130587619A>T GRCh37
NC_000009.10:g.129627440A>T NCBI36
NG_009551.1:g.34429T>A , LRG_589:g.34429T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001114753.3:c.707T>A MANE Select NP_001108225.1:p.Val236Glu
ENST00000373203.9:c.707T>A MANE Select ENSP00000362299.4:p.Val236Glu
NM_000118.3:c.707T>A , LRG_589t1:c.707T>A NP_000109.1:p.Val236Glu
NM_001114753.2:c.707T>A , LRG_589t2:c.707T>A NP_001108225.1:p.Val236Glu
NM_001278138.1:c.161T>A NP_001265067.1:p.Val54Glu
NM_001278138.2:c.161T>A NP_001265067.1:p.Val54Glu
ENST00000344849.4:c.707T>A ENSP00000341917.3:p.Val236Glu
ENST00000373203.8:c.707T>A ENSP00000362299.4:p.Val236Glu
ENST00000480266.5:c.161T>A ENSP00000479015.1:p.Val54Glu
ENST00000480266.6:c.161T>A ENSP00000479015.1:p.Val54Glu