Canonical Allele Identifier: CA374983813

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825861C>T , CM000671.2:g.127825861C>T	GRCh38
NC_000009.11:g.130588140C>T , CM000671.1:g.130588140C>T	GRCh37
NC_000009.10:g.129627961C>T	NCBI36
NG_009551.1:g.33908G>A , LRG_589:g.33908G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001114753.3:c.524-1G>A MANE Select	NP_001108225.1:n.524-1G>A
ENST00000373203.9:c.524-1G>A MANE Select	ENSP00000362299.4:n.524-1G>A
NM_000118.3:c.524-1G>A , LRG_589t1:c.524-1G>A	NP_000109.1:n.524-1G>A
NM_001114753.2:c.524-1G>A , LRG_589t2:c.524-1G>A	NP_001108225.1:n.524-1G>A
NM_001278138.1:c.-23-1G>A	NP_001265067.1:n.-23-1G>A
NM_001278138.2:c.-23-1G>A	NP_001265067.1:n.-23-1G>A
ENST00000344849.4:c.524-1G>A	ENSP00000341917.3:n.524-1G>A
ENST00000373203.8:c.524-1G>A	ENSP00000362299.4:n.524-1G>A
ENST00000462196.1:n.424-1G>A
ENST00000480266.5:c.-23-1G>A	ENSP00000479015.1:n.-23-1G>A
ENST00000480266.6:c.-23-1G>A	ENSP00000479015.1:n.-23-1G>A
XR_001746952.2:n.82+403C>T