Canonical Allele Identifier: CA1879987225
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127818743G= , CM000671.2:g.127818743G= GRCh38
NC_000009.11:g.130581022G= , CM000671.1:g.130581022G= GRCh37
NC_000009.10:g.129620843G= NCBI36
NG_009551.1:g.41026C= , LRG_589:g.41026C=

Transcript Alleles

HGVS Amino-acid change
ENST00000480266.6:c.855C= ENSP00000479015.1:p.Ile285=
ENST00000373203.9:c.1401C= MANE Select ENSP00000362299.4:p.Ile467=
ENST00000344849.4:c.1401C= ENSP00000341917.3:p.Ile467=
ENST00000373203.8:c.1401C= ENSP00000362299.4:p.Ile467=
ENST00000480266.5:c.855C= ENSP00000479015.1:p.Ile285=
NM_000118.3:c.1401C= , LRG_589t1:c.1401C= NP_000109.1:p.Ile467=
NM_001114753.2:c.1401C= , LRG_589t2:c.1401C= NP_001108225.1:p.Ile467=
NM_001278138.1:c.855C= NP_001265067.1:p.Ile285=
NR_136302.1:n.1568+32G=
NM_001114753.3:c.1401C= MANE Select NP_001108225.1:p.Ile467=
NM_001278138.2:c.855C= NP_001265067.1:p.Ile285=