Canonical Allele Identifier: CA374983162
Gene: ENG HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.127825259A>G
GRCh37 chr9:g.130587538A>G
Revel Score:
ENST00000373203 (MANE Select) 0.433
ENST00000344849 0.433
ENST00000545345 0.433
ENST00000546301 0.433
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127825259A>G , CM000671.2:g.127825259A>G GRCh38
NC_000009.11:g.130587538A>G , CM000671.1:g.130587538A>G GRCh37
NC_000009.10:g.129627359A>G NCBI36
NG_009551.1:g.34510T>C , LRG_589:g.34510T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.242T>C ENSP00000479015.1:p.Ile81Thr
ENST00000373203.9:c.788T>C MANE Select ENSP00000362299.4:p.Ile263Thr
ENST00000344849.4:c.788T>C ENSP00000341917.3:p.Ile263Thr
ENST00000373203.8:c.788T>C ENSP00000362299.4:p.Ile263Thr
ENST00000480266.5:c.242T>C ENSP00000479015.1:p.Ile81Thr
NM_000118.3:c.788T>C , LRG_589t1:c.788T>C NP_000109.1:p.Ile263Thr
NM_001114753.2:c.788T>C , LRG_589t2:c.788T>C NP_001108225.1:p.Ile263Thr
NM_001278138.1:c.242T>C NP_001265067.1:p.Ile81Thr
NM_001114753.3:c.788T>C MANE Select NP_001108225.1:p.Ile263Thr
NM_001278138.2:c.242T>C NP_001265067.1:p.Ile81Thr
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