Canonical Allele Identifier: CA5252735

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127818273C>T , CM000671.2:g.127818273C>T	GRCh38
NC_000009.11:g.130580552C>T , CM000671.1:g.130580552C>T	GRCh37
NC_000009.10:g.129620373C>T	NCBI36
NG_009551.1:g.41496G>A , LRG_589:g.41496G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001114753.3:c.1533G>A MANE Select	NP_001108225.1:p.Ala511=
ENST00000373203.9:c.1533G>A MANE Select	ENSP00000362299.4:p.Ala511=
NM_000118.3:c.1533G>A , LRG_589t1:c.1533G>A	NP_000109.1:p.Ala511=
NM_001114753.2:c.1533G>A , LRG_589t2:c.1533G>A	NP_001108225.1:p.Ala511=
NM_001278138.1:c.987G>A	NP_001265067.1:p.Ala329=
NM_001278138.2:c.987G>A	NP_001265067.1:p.Ala329=
NR_136302.1:n.1378-38C>T
ENST00000344849.4:c.1533G>A	ENSP00000341917.3:p.Ala511=
ENST00000373203.8:c.1533G>A	ENSP00000362299.4:p.Ala511=
ENST00000480266.5:c.987G>A	ENSP00000479015.1:p.Ala329=
ENST00000480266.6:c.987G>A	ENSP00000479015.1:p.Ala329=