Canonical Allele Identifier: CA5253052

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825704T>C , CM000671.2:g.127825704T>C	GRCh38
NC_000009.11:g.130587983T>C , CM000671.1:g.130587983T>C	GRCh37
NC_000009.10:g.129627804T>C	NCBI36
NG_009551.1:g.34065A>G , LRG_589:g.34065A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001114753.3:c.680A>G MANE Select	NP_001108225.1:p.His227Arg
ENST00000373203.9:c.680A>G MANE Select	ENSP00000362299.4:p.His227Arg
NM_000118.3:c.680A>G , LRG_589t1:c.680A>G	NP_000109.1:p.His227Arg
NM_001114753.2:c.680A>G , LRG_589t2:c.680A>G	NP_001108225.1:p.His227Arg
NM_001278138.1:c.134A>G	NP_001265067.1:p.His45Arg
NM_001278138.2:c.134A>G	NP_001265067.1:p.His45Arg
ENST00000344849.4:c.680A>G	ENSP00000341917.3:p.His227Arg
ENST00000373203.8:c.680A>G	ENSP00000362299.4:p.His227Arg
ENST00000480266.5:c.134A>G	ENSP00000479015.1:p.His45Arg
ENST00000480266.6:c.134A>G	ENSP00000479015.1:p.His45Arg
XR_001746952.2:n.82+246T>C