Canonical Allele Identifier: CA374978388

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127819936A>T , CM000671.2:g.127819936A>T	GRCh38
NC_000009.11:g.130582215A>T , CM000671.1:g.130582215A>T	GRCh37
NC_000009.10:g.129622036A>T	NCBI36
NG_009551.1:g.39833T>A , LRG_589:g.39833T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001114753.3:c.1236T>A MANE Select	NP_001108225.1:p.Cys412Ter
ENST00000373203.9:c.1236T>A MANE Select	ENSP00000362299.4:p.Cys412Ter
NM_000118.3:c.1236T>A , LRG_589t1:c.1236T>A	NP_000109.1:p.Cys412Ter
NM_001114753.2:c.1236T>A , LRG_589t2:c.1236T>A	NP_001108225.1:p.Cys412Ter
NM_001278138.1:c.690T>A	NP_001265067.1:p.Cys230Ter
NM_001278138.2:c.690T>A	NP_001265067.1:p.Cys230Ter
NR_136302.1:n.1568+1225A>T
ENST00000344849.4:c.1236T>A	ENSP00000341917.3:p.Cys412Ter
ENST00000373203.8:c.1236T>A	ENSP00000362299.4:p.Cys412Ter
ENST00000480266.5:c.690T>A	ENSP00000479015.1:p.Cys230Ter
ENST00000480266.6:c.690T>A	ENSP00000479015.1:p.Cys230Ter
ENST00000486329.1:n.204T>A