Canonical Allele Identifier: CA1879989736
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127819938A= , CM000671.2:g.127819938A= GRCh38
NC_000009.11:g.130582217A= , CM000671.1:g.130582217A= GRCh37
NC_000009.10:g.129622038A= NCBI36
NG_009551.1:g.39831T= , LRG_589:g.39831T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.688T= ENSP00000479015.1:p.Cys230=
ENST00000373203.9:c.1234T= MANE Select ENSP00000362299.4:p.Cys412=
ENST00000344849.4:c.1234T= ENSP00000341917.3:p.Cys412=
ENST00000373203.8:c.1234T= ENSP00000362299.4:p.Cys412=
ENST00000480266.5:c.688T= ENSP00000479015.1:p.Cys230=
ENST00000486329.1:n.202T=
NM_000118.3:c.1234T= , LRG_589t1:c.1234T= NP_000109.1:p.Cys412=
NM_001114753.2:c.1234T= , LRG_589t2:c.1234T= NP_001108225.1:p.Cys412=
NM_001278138.1:c.688T= NP_001265067.1:p.Cys230=
NR_136302.1:n.1568+1227A=
NM_001114753.3:c.1234T= MANE Select NP_001108225.1:p.Cys412=
NM_001278138.2:c.688T= NP_001265067.1:p.Cys230=