Canonical Allele Identifier: CA5252743

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127818289A>T , CM000671.2:g.127818289A>T	GRCh38
NC_000009.11:g.130580568A>T , CM000671.1:g.130580568A>T	GRCh37
NC_000009.10:g.129620389A>T	NCBI36
NG_009551.1:g.41480T>A , LRG_589:g.41480T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001114753.3:c.1517T>A MANE Select	NP_001108225.1:p.Leu506His
ENST00000373203.9:c.1517T>A MANE Select	ENSP00000362299.4:p.Leu506His
NM_000118.3:c.1517T>A , LRG_589t1:c.1517T>A	NP_000109.1:p.Leu506His
NM_001114753.2:c.1517T>A , LRG_589t2:c.1517T>A	NP_001108225.1:p.Leu506His
NM_001278138.1:c.971T>A	NP_001265067.1:p.Leu324His
NM_001278138.2:c.971T>A	NP_001265067.1:p.Leu324His
NR_136302.1:n.1378-22A>T
ENST00000344849.4:c.1517T>A	ENSP00000341917.3:p.Leu506His
ENST00000373203.8:c.1517T>A	ENSP00000362299.4:p.Leu506His
ENST00000480266.5:c.971T>A	ENSP00000479015.1:p.Leu324His
ENST00000480266.6:c.971T>A	ENSP00000479015.1:p.Leu324His