Canonical Allele Identifier: CA5253082
Gene: ENG HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.127825806G>A
GRCh37 chr9:g.130588085G>A
Revel Score:
ENST00000373203 (MANE Select) 0.078
ENST00000344849 0.078
ENST00000545345 0.078
ENST00000546301 0.078
gnomAD v2:
9:130588085 G / A
gnomAD v3:
9:127825806 G / A
gnomAD v4:
chr9-127825806-G-A
Joint Max Group AF 0.00015643 (EAS)
Exomes Max Group AF 0.00015797 (EAS)
ClinVar RCV:
RCV001764537
RCV002231269
ClinVar Variation:
458349
dbSNP:
775442178
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127825806G>A , CM000671.2:g.127825806G>A GRCh38
NC_000009.11:g.130588085G>A , CM000671.1:g.130588085G>A GRCh37
NC_000009.10:g.129627906G>A NCBI36
NG_009551.1:g.33963C>T , LRG_589:g.33963C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.32C>T ENSP00000479015.1:p.Thr11Met
ENST00000373203.9:c.578C>T MANE Select ENSP00000362299.4:p.Thr193Met
ENST00000344849.4:c.578C>T ENSP00000341917.3:p.Thr193Met
ENST00000373203.8:c.578C>T ENSP00000362299.4:p.Thr193Met
ENST00000462196.1:n.478C>T
ENST00000480266.5:c.32C>T ENSP00000479015.1:p.Thr11Met
NM_000118.3:c.578C>T , LRG_589t1:c.578C>T NP_000109.1:p.Thr193Met
NM_001114753.2:c.578C>T , LRG_589t2:c.578C>T NP_001108225.1:p.Thr193Met
NM_001278138.1:c.32C>T NP_001265067.1:p.Thr11Met
XR_001746952.2:n.82+348G>A
NM_001114753.3:c.578C>T MANE Select NP_001108225.1:p.Thr193Met
NM_001278138.2:c.32C>T NP_001265067.1:p.Thr11Met
Search 100 bp 5'
Search 100 bp 3'