Canonical Allele Identifier: CA374972322
Gene: ENG HGNC NCBI

Linked Data

dbSNP Id: rs1165364320

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127816047G>T , CM000671.2:g.127816047G>T GRCh38
NC_000009.11:g.130578326G>T , CM000671.1:g.130578326G>T GRCh37
NC_000009.10:g.129618147G>T NCBI36
NG_009551.1:g.43722C>A , LRG_589:g.43722C>A
NG_023245.1:g.18173G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.1202C>A ENSP00000479015.1:p.Thr401Lys
ENST00000373203.9:c.1748C>A MANE Select ENSP00000362299.4:p.Thr583Lys
ENST00000344849.4:c.1748C>A ENSP00000341917.3:p.Thr583Lys
ENST00000373203.8:c.1748C>A ENSP00000362299.4:p.Thr583Lys
ENST00000480266.5:c.1202C>A ENSP00000479015.1:p.Thr401Lys
NM_000118.3:c.1748C>A , LRG_589t1:c.1748C>A NP_000109.1:p.Thr583Lys
NM_001114753.2:c.1748C>A , LRG_589t2:c.1748C>A NP_001108225.1:p.Thr583Lys
NM_001278138.1:c.1202C>A NP_001265067.1:p.Thr401Lys
NM_001114753.3:c.1748C>A MANE Select NP_001108225.1:p.Thr583Lys
NM_001278138.2:c.1202C>A NP_001265067.1:p.Thr401Lys