Canonical Allele Identifier: CA374989562

Gene: ENG

Linked Data

• MyVariant Identifiers: chr9:g.130616586A>G (hg19) ; chr9:g.127854307A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127854307A>G , CM000671.2:g.127854307A>G	GRCh38
NC_000009.11:g.130616586A>G , CM000671.1:g.130616586A>G	GRCh37
NC_000009.10:g.129656407A>G	NCBI36
NG_009551.1:g.5462T>C , LRG_589:g.5462T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373203.9:c.49T>C MANE Select	ENSP00000362299.4:p.Cys17Arg
ENST00000344849.4:c.49T>C	ENSP00000341917.3:p.Cys17Arg
ENST00000373203.8:c.49T>C	ENSP00000362299.4:p.Cys17Arg
NM_000118.3:c.49T>C , LRG_589t1:c.49T>C	NP_000109.1:p.Cys17Arg
NM_001114753.2:c.49T>C , LRG_589t2:c.49T>C	NP_001108225.1:p.Cys17Arg
NM_001114753.3:c.49T>C MANE Select	NP_001108225.1:p.Cys17Arg