Canonical Allele Identifier: CA1879986207
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127818315C= , CM000671.2:g.127818315C= GRCh38
NC_000009.11:g.130580594C= , CM000671.1:g.130580594C= GRCh37
NC_000009.10:g.129620415C= NCBI36
NG_009551.1:g.41454G= , LRG_589:g.41454G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.945G= ENSP00000479015.1:p.Leu315=
ENST00000373203.9:c.1491G= MANE Select ENSP00000362299.4:p.Leu497=
ENST00000344849.4:c.1491G= ENSP00000341917.3:p.Leu497=
ENST00000373203.8:c.1491G= ENSP00000362299.4:p.Leu497=
ENST00000480266.5:c.945G= ENSP00000479015.1:p.Leu315=
NM_000118.3:c.1491G= , LRG_589t1:c.1491G= NP_000109.1:p.Leu497=
NM_001114753.2:c.1491G= , LRG_589t2:c.1491G= NP_001108225.1:p.Leu497=
NM_001278138.1:c.945G= NP_001265067.1:p.Leu315=
NR_136302.1:n.1382C=
NM_001114753.3:c.1491G= MANE Select NP_001108225.1:p.Leu497=
NM_001278138.2:c.945G= NP_001265067.1:p.Leu315=