Canonical Allele Identifier: CA1879974868
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127825339C= , CM000671.2:g.127825339C= GRCh38
NC_000009.11:g.130587618C= , CM000671.1:g.130587618C= GRCh37
NC_000009.10:g.129627439C= NCBI36
NG_009551.1:g.34430G= , LRG_589:g.34430G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.162G= ENSP00000479015.1:p.Val54=
ENST00000373203.9:c.708G= MANE Select ENSP00000362299.4:p.Val236=
ENST00000344849.4:c.708G= ENSP00000341917.3:p.Val236=
ENST00000373203.8:c.708G= ENSP00000362299.4:p.Val236=
ENST00000480266.5:c.162G= ENSP00000479015.1:p.Val54=
NM_000118.3:c.708G= , LRG_589t1:c.708G= NP_000109.1:p.Val236=
NM_001114753.2:c.708G= , LRG_589t2:c.708G= NP_001108225.1:p.Val236=
NM_001278138.1:c.162G= NP_001265067.1:p.Val54=
NM_001114753.3:c.708G= MANE Select NP_001108225.1:p.Val236=
NM_001278138.2:c.162G= NP_001265067.1:p.Val54=