Canonical Allele Identifier: CA1879975784
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127825721C= , CM000671.2:g.127825721C= GRCh38
NC_000009.11:g.130588000C= , CM000671.1:g.130588000C= GRCh37
NC_000009.10:g.129627821C= NCBI36
NG_009551.1:g.34048G= , LRG_589:g.34048G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.117G= ENSP00000479015.1:p.Leu39=
ENST00000373203.9:c.663G= MANE Select ENSP00000362299.4:p.Leu221=
ENST00000344849.4:c.663G= ENSP00000341917.3:p.Leu221=
ENST00000373203.8:c.663G= ENSP00000362299.4:p.Leu221=
ENST00000480266.5:c.117G= ENSP00000479015.1:p.Leu39=
NM_000118.3:c.663G= , LRG_589t1:c.663G= NP_000109.1:p.Leu221=
NM_001114753.2:c.663G= , LRG_589t2:c.663G= NP_001108225.1:p.Leu221=
NM_001278138.1:c.117G= NP_001265067.1:p.Leu39=
XR_001746952.2:n.82+263C=
NM_001114753.3:c.663G= MANE Select NP_001108225.1:p.Leu221=
NM_001278138.2:c.117G= NP_001265067.1:p.Leu39=