Canonical Allele Identifier: CA16612528
Gene: ENG HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.127824800C>T
GRCh37 chr9:g.130587079C>T
Revel Score:
ENST00000373203 (MANE Select) 0.202
ENST00000344849 0.202
ENST00000545345 0.202
ENST00000546301 0.202
gnomAD v2:
9:130587079 C / T
gnomAD v4:
chr9-127824800-C-T
Joint Max Group AF 2.9e-7 (NFE)
Exomes Max Group AF 3.1e-7 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127824800C>T , CM000671.2:g.127824800C>T GRCh38
NC_000009.11:g.130587079C>T , CM000671.1:g.130587079C>T GRCh37
NC_000009.10:g.129626900C>T NCBI36
NG_009551.1:g.34969G>A , LRG_589:g.34969G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.445G>A ENSP00000479015.1:p.Gly149Ser
ENST00000373203.9:c.991G>A MANE Select ENSP00000362299.4:p.Gly331Ser
ENST00000344849.4:c.991G>A ENSP00000341917.3:p.Gly331Ser
ENST00000373203.8:c.991G>A ENSP00000362299.4:p.Gly331Ser
ENST00000480266.5:c.445G>A ENSP00000479015.1:p.Gly149Ser
NM_000118.3:c.991G>A , LRG_589t1:c.991G>A NP_000109.1:p.Gly331Ser
NM_001114753.2:c.991G>A , LRG_589t2:c.991G>A NP_001108225.1:p.Gly331Ser
NM_001278138.1:c.445G>A NP_001265067.1:p.Gly149Ser
NM_001114753.3:c.991G>A MANE Select NP_001108225.1:p.Gly331Ser
NM_001278138.2:c.445G>A NP_001265067.1:p.Gly149Ser
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