Canonical Allele Identifier: CA5253001
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 439648
dbSNP Id: rs761827492

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127825320C>T , CM000671.2:g.127825320C>T GRCh38
NC_000009.11:g.130587599C>T , CM000671.1:g.130587599C>T GRCh37
NC_000009.10:g.129627420C>T NCBI36
NG_009551.1:g.34449G>A , LRG_589:g.34449G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000480266.6:c.181G>A ENSP00000479015.1:p.Ala61Thr
ENST00000373203.9:c.727G>A MANE Select ENSP00000362299.4:p.Ala243Thr
ENST00000344849.4:c.727G>A ENSP00000341917.3:p.Ala243Thr
ENST00000373203.8:c.727G>A ENSP00000362299.4:p.Ala243Thr
ENST00000480266.5:c.181G>A ENSP00000479015.1:p.Ala61Thr
NM_000118.3:c.727G>A , LRG_589t1:c.727G>A NP_000109.1:p.Ala243Thr
NM_001114753.2:c.727G>A , LRG_589t2:c.727G>A NP_001108225.1:p.Ala243Thr
NM_001278138.1:c.181G>A NP_001265067.1:p.Ala61Thr
NM_001114753.3:c.727G>A MANE Select NP_001108225.1:p.Ala243Thr
NM_001278138.2:c.181G>A NP_001265067.1:p.Ala61Thr