Canonical Allele Identifier: CA200313993

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825698G>T , CM000671.2:g.127825698G>T	GRCh38
NC_000009.11:g.130587977G>T , CM000671.1:g.130587977G>T	GRCh37
NC_000009.10:g.129627798G>T	NCBI36
NG_009551.1:g.34071C>A , LRG_589:g.34071C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001114753.3:c.686C>A MANE Select	NP_001108225.1:p.Ala229Asp
ENST00000373203.9:c.686C>A MANE Select	ENSP00000362299.4:p.Ala229Asp
NM_000118.3:c.686C>A , LRG_589t1:c.686C>A	NP_000109.1:p.Ala229Asp
NM_001114753.2:c.686C>A , LRG_589t2:c.686C>A	NP_001108225.1:p.Ala229Asp
NM_001278138.1:c.140C>A	NP_001265067.1:p.Ala47Asp
NM_001278138.2:c.140C>A	NP_001265067.1:p.Ala47Asp
ENST00000344849.4:c.686C>A	ENSP00000341917.3:p.Ala229Asp
ENST00000373203.8:c.686C>A	ENSP00000362299.4:p.Ala229Asp
ENST00000480266.5:c.140C>A	ENSP00000479015.1:p.Ala47Asp
ENST00000480266.6:c.140C>A	ENSP00000479015.1:p.Ala47Asp
XR_001746952.2:n.82+240G>T