Canonical Allele Identifier: CA374989051

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127843167A>T , CM000671.2:g.127843167A>T	GRCh38
NC_000009.11:g.130605446A>T , CM000671.1:g.130605446A>T	GRCh37
NC_000009.10:g.129645267A>T	NCBI36
NG_009551.1:g.16602T>A , LRG_589:g.16602T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001114753.3:c.146T>A MANE Select	NP_001108225.1:p.Val49Asp
ENST00000373203.9:c.146T>A MANE Select	ENSP00000362299.4:p.Val49Asp
NM_000118.3:c.146T>A , LRG_589t1:c.146T>A	NP_000109.1:p.Val49Asp
NM_001114753.2:c.146T>A , LRG_589t2:c.146T>A	NP_001108225.1:p.Val49Asp
NM_001278138.1:c.-401T>A	NP_001265067.1:n.-401T>A
NM_001278138.2:c.-401T>A	NP_001265067.1:n.-401T>A
ENST00000344849.4:c.146T>A	ENSP00000341917.3:p.Val49Asp
ENST00000373203.8:c.146T>A	ENSP00000362299.4:p.Val49Asp
ENST00000480266.5:c.-401T>A	ENSP00000479015.1:n.-401T>A
ENST00000480266.6:c.-401T>A	ENSP00000479015.1:n.-401T>A