Canonical Allele Identifier: CA5252738

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127818277C>T , CM000671.2:g.127818277C>T	GRCh38
NC_000009.11:g.130580556C>T , CM000671.1:g.130580556C>T	GRCh37
NC_000009.10:g.129620377C>T	NCBI36
NG_009551.1:g.41492G>A , LRG_589:g.41492G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001114753.3:c.1529G>A MANE Select	NP_001108225.1:p.Arg510Gln
ENST00000373203.9:c.1529G>A MANE Select	ENSP00000362299.4:p.Arg510Gln
NM_000118.3:c.1529G>A , LRG_589t1:c.1529G>A	NP_000109.1:p.Arg510Gln
NM_001114753.2:c.1529G>A , LRG_589t2:c.1529G>A	NP_001108225.1:p.Arg510Gln
NM_001278138.1:c.983G>A	NP_001265067.1:p.Arg328Gln
NM_001278138.2:c.983G>A	NP_001265067.1:p.Arg328Gln
NR_136302.1:n.1378-34C>T
ENST00000344849.4:c.1529G>A	ENSP00000341917.3:p.Arg510Gln
ENST00000373203.8:c.1529G>A	ENSP00000362299.4:p.Arg510Gln
ENST00000480266.5:c.983G>A	ENSP00000479015.1:p.Arg328Gln
ENST00000480266.6:c.983G>A	ENSP00000479015.1:p.Arg328Gln