Canonical Allele Identifier: CA1879987478
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127818827C= , CM000671.2:g.127818827C= GRCh38
NC_000009.11:g.130581106C= , CM000671.1:g.130581106C= GRCh37
NC_000009.10:g.129620927C= NCBI36
NG_009551.1:g.40942G= , LRG_589:g.40942G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.771G= ENSP00000479015.1:p.Lys257=
ENST00000373203.9:c.1317G= MANE Select ENSP00000362299.4:p.Lys439=
ENST00000344849.4:c.1317G= ENSP00000341917.3:p.Lys439=
ENST00000373203.8:c.1317G= ENSP00000362299.4:p.Lys439=
ENST00000480266.5:c.771G= ENSP00000479015.1:p.Lys257=
NM_000118.3:c.1317G= , LRG_589t1:c.1317G= NP_000109.1:p.Lys439=
NM_001114753.2:c.1317G= , LRG_589t2:c.1317G= NP_001108225.1:p.Lys439=
NM_001278138.1:c.771G= NP_001265067.1:p.Lys257=
NR_136302.1:n.1568+116C=
NM_001114753.3:c.1317G= MANE Select NP_001108225.1:p.Lys439=
NM_001278138.2:c.771G= NP_001265067.1:p.Lys257=