Canonical Allele Identifier: CA5253173

Gene: ENG

Linked Data

• dbSNP Id: rs554072090
• ExAC: 9:130592055 A / T
• gnomAD v2: 9-130592055-A-T
• gnomAD v3: 9-127829776-A-T
• gnomAD v4: 9-127829776-A-T
• MyVariant Identifiers: chr9:g.130592055A>T (hg19) ; chr9:g.127829776A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127829776A>T , CM000671.2:g.127829776A>T	GRCh38
NC_000009.11:g.130592055A>T , CM000671.1:g.130592055A>T	GRCh37
NC_000009.10:g.129631876A>T	NCBI36
NG_009551.1:g.29993T>A , LRG_589:g.29993T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.-276T>A	ENSP00000479015.1:n.-276T>A
ENST00000373203.9:c.271T>A MANE Select	ENSP00000362299.4:p.Trp91Arg
ENST00000344849.4:c.271T>A	ENSP00000341917.3:p.Trp91Arg
ENST00000373203.8:c.271T>A	ENSP00000362299.4:p.Trp91Arg
ENST00000462196.1:n.29T>A
ENST00000480266.5:c.-276T>A	ENSP00000479015.1:n.-276T>A
NM_000118.3:c.271T>A , LRG_589t1:c.271T>A	NP_000109.1:p.Trp91Arg
NM_001114753.2:c.271T>A , LRG_589t2:c.271T>A	NP_001108225.1:p.Trp91Arg
NM_001278138.1:c.-276T>A	NP_001265067.1:n.-276T>A
XR_001746952.2:n.83-2622A>T
NM_001114753.3:c.271T>A MANE Select	NP_001108225.1:p.Trp91Arg
NM_001278138.2:c.-276T>A	NP_001265067.1:n.-276T>A