Canonical Allele Identifier: CA1879981982
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127829800G= , CM000671.2:g.127829800G= GRCh38
NC_000009.11:g.130592079G= , CM000671.1:g.130592079G= GRCh37
NC_000009.10:g.129631900G= NCBI36
NG_009551.1:g.29969C= , LRG_589:g.29969C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.-300C= ENSP00000479015.1:n.-300C=
ENST00000373203.9:c.247C= MANE Select ENSP00000362299.4:p.Gln83=
ENST00000344849.4:c.247C= ENSP00000341917.3:p.Gln83=
ENST00000373203.8:c.247C= ENSP00000362299.4:p.Gln83=
ENST00000462196.1:n.5C=
ENST00000480266.5:c.-300C= ENSP00000479015.1:n.-300C=
NM_000118.3:c.247C= , LRG_589t1:c.247C= NP_000109.1:p.Gln83=
NM_001114753.2:c.247C= , LRG_589t2:c.247C= NP_001108225.1:p.Gln83=
NM_001278138.1:c.-300C= NP_001265067.1:n.-300C=
XR_001746952.2:n.83-2598G=
NM_001114753.3:c.247C= MANE Select NP_001108225.1:p.Gln83=
NM_001278138.2:c.-300C= NP_001265067.1:n.-300C=