Canonical Allele Identifier: CA5252997
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 645651
ClinVar RCV Id: RCV000799784
dbSNP Id: rs775160533

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127825305C>T , CM000671.2:g.127825305C>T GRCh38
NC_000009.11:g.130587584C>T , CM000671.1:g.130587584C>T GRCh37
NC_000009.10:g.129627405C>T NCBI36
NG_009551.1:g.34464G>A , LRG_589:g.34464G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.196G>A ENSP00000479015.1:p.Asp66Asn
ENST00000373203.9:c.742G>A MANE Select ENSP00000362299.4:p.Asp248Asn
ENST00000344849.4:c.742G>A ENSP00000341917.3:p.Asp248Asn
ENST00000373203.8:c.742G>A ENSP00000362299.4:p.Asp248Asn
ENST00000480266.5:c.196G>A ENSP00000479015.1:p.Asp66Asn
NM_000118.3:c.742G>A , LRG_589t1:c.742G>A NP_000109.1:p.Asp248Asn
NM_001114753.2:c.742G>A , LRG_589t2:c.742G>A NP_001108225.1:p.Asp248Asn
NM_001278138.1:c.196G>A NP_001265067.1:p.Asp66Asn
NM_001114753.3:c.742G>A MANE Select NP_001108225.1:p.Asp248Asn
NM_001278138.2:c.196G>A NP_001265067.1:p.Asp66Asn