Canonical Allele Identifier: CA374984168

Gene: ENG

Linked Data

• MyVariant Identifiers: chr9:g.130588825T>C (hg19) ; chr9:g.127826546T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127826546T>C , CM000671.2:g.127826546T>C	GRCh38
NC_000009.11:g.130588825T>C , CM000671.1:g.130588825T>C	GRCh37
NC_000009.10:g.129628646T>C	NCBI36
NG_009551.1:g.33223A>G , LRG_589:g.33223A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.-60A>G	ENSP00000479015.1:n.-60A>G
ENST00000373203.9:c.487A>G MANE Select	ENSP00000362299.4:p.Asn163Asp
ENST00000344849.4:c.487A>G	ENSP00000341917.3:p.Asn163Asp
ENST00000373203.8:c.487A>G	ENSP00000362299.4:p.Asn163Asp
ENST00000462196.1:n.387A>G
ENST00000480266.5:c.-60A>G	ENSP00000479015.1:n.-60A>G
NM_000118.3:c.487A>G , LRG_589t1:c.487A>G	NP_000109.1:p.Asn163Asp
NM_001114753.2:c.487A>G , LRG_589t2:c.487A>G	NP_001108225.1:p.Asn163Asp
NM_001278138.1:c.-60A>G	NP_001265067.1:n.-60A>G
XR_001746952.2:n.82+1088T>C
NM_001114753.3:c.487A>G MANE Select	NP_001108225.1:p.Asn163Asp
NM_001278138.2:c.-60A>G	NP_001265067.1:n.-60A>G