Canonical Allele Identifier: CA374989521
Gene: ENG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127854297C>A , CM000671.2:g.127854297C>A GRCh38
NC_000009.11:g.130616576C>A , CM000671.1:g.130616576C>A GRCh37
NC_000009.10:g.129656397C>A NCBI36
NG_009551.1:g.5472G>T , LRG_589:g.5472G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373203.9:c.59G>T MANE Select ENSP00000362299.4:p.Ser20Ile
ENST00000344849.4:c.59G>T ENSP00000341917.3:p.Ser20Ile
ENST00000373203.8:c.59G>T ENSP00000362299.4:p.Ser20Ile
NM_000118.3:c.59G>T , LRG_589t1:c.59G>T NP_000109.1:p.Ser20Ile
NM_001114753.2:c.59G>T , LRG_589t2:c.59G>T NP_001108225.1:p.Ser20Ile
NM_001114753.3:c.59G>T MANE Select NP_001108225.1:p.Ser20Ile