Canonical Allele Identifier: CA374989539
Gene: ENG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127854301G>T , CM000671.2:g.127854301G>T GRCh38
NC_000009.11:g.130616580G>T , CM000671.1:g.130616580G>T GRCh37
NC_000009.10:g.129656401G>T NCBI36
NG_009551.1:g.5468C>A , LRG_589:g.5468C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373203.9:c.55C>A MANE Select ENSP00000362299.4:p.Leu19Ile
ENST00000344849.4:c.55C>A ENSP00000341917.3:p.Leu19Ile
ENST00000373203.8:c.55C>A ENSP00000362299.4:p.Leu19Ile
NM_000118.3:c.55C>A , LRG_589t1:c.55C>A NP_000109.1:p.Leu19Ile
NM_001114753.2:c.55C>A , LRG_589t2:c.55C>A NP_001108225.1:p.Leu19Ile
NM_001114753.3:c.55C>A MANE Select NP_001108225.1:p.Leu19Ile