Canonical Allele Identifier: CA2691805047
Gene: ENG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127815032T>G , CM000671.2:g.127815032T>G GRCh38
NC_000009.11:g.130577311T>G , CM000671.1:g.130577311T>G GRCh37
NC_000009.10:g.129617132T>G NCBI36
NG_009551.1:g.44737A>C , LRG_589:g.44737A>C
NG_023245.1:g.17158T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.*650A>C ENSP00000479015.1:n.*650A>C
ENST00000373203.9:c.*650A>C MANE Select ENSP00000362299.4:n.*650A>C
ENST00000344849.4:c.*885A>C ENSP00000341917.3:n.*885A>C
ENST00000373203.8:c.*650A>C ENSP00000362299.4:n.*650A>C
ENST00000480266.5:c.*650A>C ENSP00000479015.1:n.*650A>C
NM_000118.3:c.*885A>C , LRG_589t1:c.*885A>C NP_000109.1:n.*885A>C
NM_001114753.2:c.*650A>C , LRG_589t2:c.*650A>C NP_001108225.1:n.*650A>C
NM_001278138.1:c.*650A>C NP_001265067.1:n.*650A>C
NM_001114753.3:c.*650A>C MANE Select NP_001108225.1:n.*650A>C
NM_001278138.2:c.*650A>C NP_001265067.1:n.*650A>C