Canonical Allele Identifier: CA1879982009
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127829809G= , CM000671.2:g.127829809G= GRCh38
NC_000009.11:g.130592088G= , CM000671.1:g.130592088G= GRCh37
NC_000009.10:g.129631909G= NCBI36
NG_009551.1:g.29960C= , LRG_589:g.29960C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.-309C= ENSP00000479015.1:n.-309C=
ENST00000373203.9:c.238C= MANE Select ENSP00000362299.4:p.Leu80=
ENST00000344849.4:c.238C= ENSP00000341917.3:p.Leu80=
ENST00000373203.8:c.238C= ENSP00000362299.4:p.Leu80=
ENST00000480266.5:c.-309C= ENSP00000479015.1:n.-309C=
NM_000118.3:c.238C= , LRG_589t1:c.238C= NP_000109.1:p.Leu80=
NM_001114753.2:c.238C= , LRG_589t2:c.238C= NP_001108225.1:p.Leu80=
NM_001278138.1:c.-309C= NP_001265067.1:n.-309C=
XR_001746952.2:n.83-2589G=
NM_001114753.3:c.238C= MANE Select NP_001108225.1:p.Leu80=
NM_001278138.2:c.-309C= NP_001265067.1:n.-309C=