Canonical Allele Identifier: CA374983506

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825710G>T , CM000671.2:g.127825710G>T	GRCh38
NC_000009.11:g.130587989G>T , CM000671.1:g.130587989G>T	GRCh37
NC_000009.10:g.129627810G>T	NCBI36
NG_009551.1:g.34059C>A , LRG_589:g.34059C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001114753.3:c.674C>A MANE Select	NP_001108225.1:p.Pro225Gln
ENST00000373203.9:c.674C>A MANE Select	ENSP00000362299.4:p.Pro225Gln
NM_000118.3:c.674C>A , LRG_589t1:c.674C>A	NP_000109.1:p.Pro225Gln
NM_001114753.2:c.674C>A , LRG_589t2:c.674C>A	NP_001108225.1:p.Pro225Gln
NM_001278138.1:c.128C>A	NP_001265067.1:p.Pro43Gln
NM_001278138.2:c.128C>A	NP_001265067.1:p.Pro43Gln
ENST00000344849.4:c.674C>A	ENSP00000341917.3:p.Pro225Gln
ENST00000373203.8:c.674C>A	ENSP00000362299.4:p.Pro225Gln
ENST00000480266.5:c.128C>A	ENSP00000479015.1:p.Pro43Gln
ENST00000480266.6:c.128C>A	ENSP00000479015.1:p.Pro43Gln
XR_001746952.2:n.82+252G>T