Canonical Allele Identifier: CA374982796
Gene: ENG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127824955A>G , CM000671.2:g.127824955A>G GRCh38
NC_000009.11:g.130587234A>G , CM000671.1:g.130587234A>G GRCh37
NC_000009.10:g.129627055A>G NCBI36
NG_009551.1:g.34814T>C , LRG_589:g.34814T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.290T>C ENSP00000479015.1:p.Phe97Ser
ENST00000373203.9:c.836T>C MANE Select ENSP00000362299.4:p.Phe279Ser
ENST00000344849.4:c.836T>C ENSP00000341917.3:p.Phe279Ser
ENST00000373203.8:c.836T>C ENSP00000362299.4:p.Phe279Ser
ENST00000480266.5:c.290T>C ENSP00000479015.1:p.Phe97Ser
NM_000118.3:c.836T>C , LRG_589t1:c.836T>C NP_000109.1:p.Phe279Ser
NM_001114753.2:c.836T>C , LRG_589t2:c.836T>C NP_001108225.1:p.Phe279Ser
NM_001278138.1:c.290T>C NP_001265067.1:p.Phe97Ser
NM_001114753.3:c.836T>C MANE Select NP_001108225.1:p.Phe279Ser
NM_001278138.2:c.290T>C NP_001265067.1:p.Phe97Ser