Canonical Allele Identifier: CA1879980494
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127815397G= , CM000671.2:g.127815397G= GRCh38
NC_000009.11:g.130577676G= , CM000671.1:g.130577676G= GRCh37
NC_000009.10:g.129617497G= NCBI36
NG_009551.1:g.44372C= , LRG_589:g.44372C=
NG_023245.1:g.17523G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.*285C= ENSP00000479015.1:n.*285C=
ENST00000373203.9:c.*285C= MANE Select ENSP00000362299.4:n.*285C=
ENST00000344849.4:c.*520C= ENSP00000341917.3:n.*520C=
ENST00000373203.8:c.*285C= ENSP00000362299.4:n.*285C=
ENST00000480266.5:c.*285C= ENSP00000479015.1:n.*285C=
NM_000118.3:c.*520C= , LRG_589t1:c.*520C= NP_000109.1:n.*520C=
NM_001114753.2:c.*285C= , LRG_589t2:c.*285C= NP_001108225.1:n.*285C=
NM_001278138.1:c.*285C= NP_001265067.1:n.*285C=
NM_001114753.3:c.*285C= MANE Select NP_001108225.1:n.*285C=
NM_001278138.2:c.*285C= NP_001265067.1:n.*285C=