Canonical Allele Identifier: CA5252735
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 237020
ClinVar RCV Id: RCV000226501
dbSNP Id: rs140760635

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
ENST00000373203.9:c.1533G>A MANE Select ENSP00000362299.4:p.Ala511=
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=
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=
NR_136302.1:n.1378-38C>T
NM_001114753.3:c.1533G>A MANE Select NP_001108225.1:p.Ala511=
NM_001278138.2:c.987G>A NP_001265067.1:p.Ala329=