Canonical Allele Identifier: CA1879995099

Gene: ENG

Linked Data

• dbSNP Id: rs1830993530

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127840101A>G , CM000671.2:g.127840101A>G	GRCh38
NC_000009.11:g.130602380A>G , CM000671.1:g.130602380A>G	GRCh37
NC_000009.10:g.129642201A>G	NCBI36
NG_009551.1:g.19668T>C , LRG_589:g.19668T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.-328+2993T>C	ENSP00000479015.1:n.-328+2993T>C
ENST00000373203.9:c.219+2993T>C MANE Select	ENSP00000362299.4:n.219+2993T>C
ENST00000344849.4:c.219+2993T>C	ENSP00000341917.3:n.219+2993T>C
ENST00000373203.8:c.219+2993T>C	ENSP00000362299.4:n.219+2993T>C
ENST00000480266.5:c.-328+2993T>C	ENSP00000479015.1:n.-328+2993T>C
NM_000118.3:c.219+2993T>C , LRG_589t1:c.219+2993T>C	NP_000109.1:n.219+2993T>C
NM_001114753.2:c.219+2993T>C , LRG_589t2:c.219+2993T>C	NP_001108225.1:n.219+2993T>C
NM_001278138.1:c.-328+2993T>C	NP_001265067.1:n.-328+2993T>C
NM_001114753.3:c.219+2993T>C MANE Select	NP_001108225.1:n.219+2993T>C
NM_001278138.2:c.-328+2993T>C	NP_001265067.1:n.-328+2993T>C