Canonical Allele Identifier: CA2691805435

Gene: ENG

Linked Data

• gnomAD v4: 9-127815393-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815393G>T , CM000671.2:g.127815393G>T	GRCh38
NC_000009.11:g.130577672G>T , CM000671.1:g.130577672G>T	GRCh37
NC_000009.10:g.129617493G>T	NCBI36
NG_009551.1:g.44376C>A , LRG_589:g.44376C>A
NG_023245.1:g.17519G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.*289C>A	ENSP00000479015.1:n.*289C>A
ENST00000373203.9:c.*289C>A MANE Select	ENSP00000362299.4:n.*289C>A
ENST00000344849.4:c.*524C>A	ENSP00000341917.3:n.*524C>A
ENST00000373203.8:c.*289C>A	ENSP00000362299.4:n.*289C>A
ENST00000480266.5:c.*289C>A	ENSP00000479015.1:n.*289C>A
NM_000118.3:c.*524C>A , LRG_589t1:c.*524C>A	NP_000109.1:n.*524C>A
NM_001114753.2:c.*289C>A , LRG_589t2:c.*289C>A	NP_001108225.1:n.*289C>A
NM_001278138.1:c.*289C>A	NP_001265067.1:n.*289C>A
NM_001114753.3:c.*289C>A MANE Select	NP_001108225.1:n.*289C>A
NM_001278138.2:c.*289C>A	NP_001265067.1:n.*289C>A