Canonical Allele Identifier: CA374983301

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825284C>A , CM000671.2:g.127825284C>A	GRCh38
NC_000009.11:g.130587563C>A , CM000671.1:g.130587563C>A	GRCh37
NC_000009.10:g.129627384C>A	NCBI36
NG_009551.1:g.34485G>T , LRG_589:g.34485G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001114753.3:c.763G>T MANE Select	NP_001108225.1:p.Gly255Cys
ENST00000373203.9:c.763G>T MANE Select	ENSP00000362299.4:p.Gly255Cys
NM_000118.3:c.763G>T , LRG_589t1:c.763G>T	NP_000109.1:p.Gly255Cys
NM_001114753.2:c.763G>T , LRG_589t2:c.763G>T	NP_001108225.1:p.Gly255Cys
NM_001278138.1:c.217G>T	NP_001265067.1:p.Gly73Cys
NM_001278138.2:c.217G>T	NP_001265067.1:p.Gly73Cys
ENST00000344849.4:c.763G>T	ENSP00000341917.3:p.Gly255Cys
ENST00000373203.8:c.763G>T	ENSP00000362299.4:p.Gly255Cys
ENST00000480266.5:c.217G>T	ENSP00000479015.1:p.Gly73Cys
ENST00000480266.6:c.217G>T	ENSP00000479015.1:p.Gly73Cys