Canonical Allele Identifier: CA1879972674
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127824398T= , CM000671.2:g.127824398T= GRCh38
NC_000009.11:g.130586677T= , CM000671.1:g.130586677T= GRCh37
NC_000009.10:g.129626498T= NCBI36
NG_009551.1:g.35371A= , LRG_589:g.35371A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.494A= ENSP00000479015.1:p.Lys165=
ENST00000373203.9:c.1040A= MANE Select ENSP00000362299.4:p.Lys347=
ENST00000344849.4:c.1040A= ENSP00000341917.3:p.Lys347=
ENST00000373203.8:c.1040A= ENSP00000362299.4:p.Lys347=
ENST00000480266.5:c.494A= ENSP00000479015.1:p.Lys165=
ENST00000486329.1:n.8A=
NM_000118.3:c.1040A= , LRG_589t1:c.1040A= NP_000109.1:p.Lys347=
NM_001114753.2:c.1040A= , LRG_589t2:c.1040A= NP_001108225.1:p.Lys347=
NM_001278138.1:c.494A= NP_001265067.1:p.Lys165=
NM_001114753.3:c.1040A= MANE Select NP_001108225.1:p.Lys347=
NM_001278138.2:c.494A= NP_001265067.1:p.Lys165=