Canonical Allele Identifier: CA2691810587

Gene: ENG

Linked Data

• gnomAD v4: 9-127854361-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127854361C>T , CM000671.2:g.127854361C>T	GRCh38
NC_000009.11:g.130616640C>T , CM000671.1:g.130616640C>T	GRCh37
NC_000009.10:g.129656461C>T	NCBI36
NG_009551.1:g.5408G>A , LRG_589:g.5408G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373203.9:c.-6G>A MANE Select	ENSP00000362299.4:n.-6G>A
ENST00000344849.4:c.-6G>A	ENSP00000341917.3:n.-6G>A
ENST00000373203.8:c.-6G>A	ENSP00000362299.4:n.-6G>A
NM_000118.3:c.-6G>A , LRG_589t1:c.-6G>A	NP_000109.1:n.-6G>A
NM_001114753.2:c.-6G>A , LRG_589t2:c.-6G>A	NP_001108225.1:n.-6G>A
NM_001114753.3:c.-6G>A MANE Select	NP_001108225.1:n.-6G>A