Canonical Allele Identifier: CA467475082
Gene: ENG HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.130587516C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127825237C>T , CM000671.2:g.127825237C>T GRCh38
NC_000009.11:g.130587516C>T , CM000671.1:g.130587516C>T GRCh37
NC_000009.10:g.129627337C>T NCBI36
NG_009551.1:g.34532G>A , LRG_589:g.34532G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000480266.6:c.264G>A ENSP00000479015.1:p.Gln88=
ENST00000373203.9:c.810G>A MANE Select ENSP00000362299.4:p.Gln270=
ENST00000344849.4:c.810G>A ENSP00000341917.3:p.Gln270=
ENST00000373203.8:c.810G>A ENSP00000362299.4:p.Gln270=
ENST00000480266.5:c.264G>A ENSP00000479015.1:p.Gln88=
NM_000118.3:c.810G>A , LRG_589t1:c.810G>A NP_000109.1:p.Gln270=
NM_001114753.2:c.810G>A , LRG_589t2:c.810G>A NP_001108225.1:p.Gln270=
NM_001278138.1:c.264G>A NP_001265067.1:p.Gln88=
NM_001114753.3:c.810G>A MANE Select NP_001108225.1:p.Gln270=
NM_001278138.2:c.264G>A NP_001265067.1:p.Gln88=