Canonical Allele Identifier: CA2691805163
Gene: ENG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127815171G>T , CM000671.2:g.127815171G>T GRCh38
NC_000009.11:g.130577450G>T , CM000671.1:g.130577450G>T GRCh37
NC_000009.10:g.129617271G>T NCBI36
NG_009551.1:g.44598C>A , LRG_589:g.44598C>A
NG_023245.1:g.17297G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.*511C>A ENSP00000479015.1:n.*511C>A
ENST00000373203.9:c.*511C>A MANE Select ENSP00000362299.4:n.*511C>A
ENST00000344849.4:c.*746C>A ENSP00000341917.3:n.*746C>A
ENST00000373203.8:c.*511C>A ENSP00000362299.4:n.*511C>A
ENST00000480266.5:c.*511C>A ENSP00000479015.1:n.*511C>A
NM_000118.3:c.*746C>A , LRG_589t1:c.*746C>A NP_000109.1:n.*746C>A
NM_001114753.2:c.*511C>A , LRG_589t2:c.*511C>A NP_001108225.1:n.*511C>A
NM_001278138.1:c.*511C>A NP_001265067.1:n.*511C>A
NM_001114753.3:c.*511C>A MANE Select NP_001108225.1:n.*511C>A
NM_001278138.2:c.*511C>A NP_001265067.1:n.*511C>A