Canonical Allele Identifier: CA1879999054
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127843094C= , CM000671.2:g.127843094C= GRCh38
NC_000009.11:g.130605373C= , CM000671.1:g.130605373C= GRCh37
NC_000009.10:g.129645194C= NCBI36
NG_009551.1:g.16675G= , LRG_589:g.16675G=

Transcript Alleles

HGVS Amino-acid Change
NM_001114753.3:c.219G= MANE Select NP_001108225.1:p.Thr73=
ENST00000373203.9:c.219G= MANE Select ENSP00000362299.4:p.Thr73=
NM_000118.3:c.219G= , LRG_589t1:c.219G= NP_000109.1:p.Thr73=
NM_001114753.2:c.219G= , LRG_589t2:c.219G= NP_001108225.1:p.Thr73=
NM_001278138.1:c.-328G= NP_001265067.1:n.-328G=
NM_001278138.2:c.-328G= NP_001265067.1:n.-328G=
ENST00000344849.4:c.219G= ENSP00000341917.3:p.Thr73=
ENST00000373203.8:c.219G= ENSP00000362299.4:p.Thr73=
ENST00000480266.5:c.-328G= ENSP00000479015.1:n.-328G=
ENST00000480266.6:c.-328G= ENSP00000479015.1:n.-328G=