Canonical Allele Identifier: CA2691805396

Gene: ENG

Linked Data

• gnomAD v4: 9-127815359-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815359G>A , CM000671.2:g.127815359G>A	GRCh38
NC_000009.11:g.130577638G>A , CM000671.1:g.130577638G>A	GRCh37
NC_000009.10:g.129617459G>A	NCBI36
NG_009551.1:g.44410C>T , LRG_589:g.44410C>T
NG_023245.1:g.17485G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.*323C>T	ENSP00000479015.1:n.*323C>T
ENST00000373203.9:c.*323C>T MANE Select	ENSP00000362299.4:n.*323C>T
ENST00000344849.4:c.*558C>T	ENSP00000341917.3:n.*558C>T
ENST00000373203.8:c.*323C>T	ENSP00000362299.4:n.*323C>T
ENST00000480266.5:c.*323C>T	ENSP00000479015.1:n.*323C>T
NM_000118.3:c.*558C>T , LRG_589t1:c.*558C>T	NP_000109.1:n.*558C>T
NM_001114753.2:c.*323C>T , LRG_589t2:c.*323C>T	NP_001108225.1:n.*323C>T
NM_001278138.1:c.*323C>T	NP_001265067.1:n.*323C>T
NM_001114753.3:c.*323C>T MANE Select	NP_001108225.1:n.*323C>T
NM_001278138.2:c.*323C>T	NP_001265067.1:n.*323C>T