Canonical Allele Identifier: CA1879980124
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127815202G= , CM000671.2:g.127815202G= GRCh38
NC_000009.11:g.130577481G= , CM000671.1:g.130577481G= GRCh37
NC_000009.10:g.129617302G= NCBI36
NG_009551.1:g.44567C= , LRG_589:g.44567C=
NG_023245.1:g.17328G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.*480C= ENSP00000479015.1:n.*480C=
ENST00000373203.9:c.*480C= MANE Select ENSP00000362299.4:n.*480C=
ENST00000344849.4:c.*715C= ENSP00000341917.3:n.*715C=
ENST00000373203.8:c.*480C= ENSP00000362299.4:n.*480C=
ENST00000480266.5:c.*480C= ENSP00000479015.1:n.*480C=
NM_000118.3:c.*715C= , LRG_589t1:c.*715C= NP_000109.1:n.*715C=
NM_001114753.2:c.*480C= , LRG_589t2:c.*480C= NP_001108225.1:n.*480C=
NM_001278138.1:c.*480C= NP_001265067.1:n.*480C=
NM_001114753.3:c.*480C= MANE Select NP_001108225.1:n.*480C=
NM_001278138.2:c.*480C= NP_001265067.1:n.*480C=