Canonical Allele Identifier: CA467235198
Gene: ENG HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.130616569T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127854290T>C , CM000671.2:g.127854290T>C GRCh38
NC_000009.11:g.130616569T>C , CM000671.1:g.130616569T>C GRCh37
NC_000009.10:g.129656390T>C NCBI36
NG_009551.1:g.5479A>G , LRG_589:g.5479A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373203.9:c.66A>G MANE Select ENSP00000362299.4:p.Thr22=
ENST00000344849.4:c.66A>G ENSP00000341917.3:p.Thr22=
ENST00000373203.8:c.66A>G ENSP00000362299.4:p.Thr22=
NM_000118.3:c.66A>G , LRG_589t1:c.66A>G NP_000109.1:p.Thr22=
NM_001114753.2:c.66A>G , LRG_589t2:c.66A>G NP_001108225.1:p.Thr22=
NM_001114753.3:c.66A>G MANE Select NP_001108225.1:p.Thr22=