Canonical Allele Identifier: CA467235199

Gene: ENG

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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