Canonical Allele Identifier: CA5253178
Gene: ENG HGNC NCBI

Linked Data

dbSNP Id: rs763992842

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127829812C>T , CM000671.2:g.127829812C>T GRCh38
NC_000009.11:g.130592091C>T , CM000671.1:g.130592091C>T GRCh37
NC_000009.10:g.129631912C>T NCBI36
NG_009551.1:g.29957G>A , LRG_589:g.29957G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.-312G>A ENSP00000479015.1:n.-312G>A
ENST00000373203.9:c.235G>A MANE Select ENSP00000362299.4:p.Glu79Lys
ENST00000344849.4:c.235G>A ENSP00000341917.3:p.Glu79Lys
ENST00000373203.8:c.235G>A ENSP00000362299.4:p.Glu79Lys
ENST00000480266.5:c.-312G>A ENSP00000479015.1:n.-312G>A
NM_000118.3:c.235G>A , LRG_589t1:c.235G>A NP_000109.1:p.Glu79Lys
NM_001114753.2:c.235G>A , LRG_589t2:c.235G>A NP_001108225.1:p.Glu79Lys
NM_001278138.1:c.-312G>A NP_001265067.1:n.-312G>A
XR_001746952.2:n.83-2586C>T
NM_001114753.3:c.235G>A MANE Select NP_001108225.1:p.Glu79Lys
NM_001278138.2:c.-312G>A NP_001265067.1:n.-312G>A