Canonical Allele Identifier: CA2785997403

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127853897G>T , CM000671.2:g.127853897G>T	GRCh38
NC_000009.11:g.130616176G>T , CM000671.1:g.130616176G>T	GRCh37
NC_000009.10:g.129655997G>T	NCBI36
NG_009551.1:g.5872C>A , LRG_589:g.5872C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373203.9:c.67+392C>A MANE Select	ENSP00000362299.4:n.67+392C>A
ENST00000344849.4:c.67+392C>A	ENSP00000341917.3:n.67+392C>A
ENST00000373203.8:c.67+392C>A	ENSP00000362299.4:n.67+392C>A
NM_000118.3:c.67+392C>A , LRG_589t1:c.67+392C>A	NP_000109.1:n.67+392C>A
NM_001114753.2:c.67+392C>A , LRG_589t2:c.67+392C>A	NP_001108225.1:n.67+392C>A
NM_001114753.3:c.67+392C>A MANE Select	NP_001108225.1:n.67+392C>A