Canonical Allele Identifier: CA374984155

Gene: ENG

Linked Data

• ClinVar Variation Id: 2682635
• ClinVar RCV Id: RCV003480008
• MyVariant Identifiers: chr9:g.130588820G>T (hg19) ; chr9:g.127826541G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127826541G>T , CM000671.2:g.127826541G>T	GRCh38
NC_000009.11:g.130588820G>T , CM000671.1:g.130588820G>T	GRCh37
NC_000009.10:g.129628641G>T	NCBI36
NG_009551.1:g.33228C>A , LRG_589:g.33228C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.-55C>A	ENSP00000479015.1:n.-55C>A
ENST00000373203.9:c.492C>A MANE Select	ENSP00000362299.4:p.Asp164Glu
ENST00000344849.4:c.492C>A	ENSP00000341917.3:p.Asp164Glu
ENST00000373203.8:c.492C>A	ENSP00000362299.4:p.Asp164Glu
ENST00000462196.1:n.392C>A
ENST00000480266.5:c.-55C>A	ENSP00000479015.1:n.-55C>A
NM_000118.3:c.492C>A , LRG_589t1:c.492C>A	NP_000109.1:p.Asp164Glu
NM_001114753.2:c.492C>A , LRG_589t2:c.492C>A	NP_001108225.1:p.Asp164Glu
NM_001278138.1:c.-55C>A	NP_001265067.1:n.-55C>A
XR_001746952.2:n.82+1083G>T
NM_001114753.3:c.492C>A MANE Select	NP_001108225.1:p.Asp164Glu
NM_001278138.2:c.-55C>A	NP_001265067.1:n.-55C>A