Canonical Allele Identifier: CA374983024

Gene: ENG

Linked Data

• MyVariant Identifiers: chr9:g.130587515T>A (hg19) ; chr9:g.127825236T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825236T>A , CM000671.2:g.127825236T>A	GRCh38
NC_000009.11:g.130587515T>A , CM000671.1:g.130587515T>A	GRCh37
NC_000009.10:g.129627336T>A	NCBI36
NG_009551.1:g.34533A>T , LRG_589:g.34533A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.265A>T	ENSP00000479015.1:p.Ile89Phe
ENST00000373203.9:c.811A>T MANE Select	ENSP00000362299.4:p.Ile271Phe
ENST00000344849.4:c.811A>T	ENSP00000341917.3:p.Ile271Phe
ENST00000373203.8:c.811A>T	ENSP00000362299.4:p.Ile271Phe
ENST00000480266.5:c.265A>T	ENSP00000479015.1:p.Ile89Phe
NM_000118.3:c.811A>T , LRG_589t1:c.811A>T	NP_000109.1:p.Ile271Phe
NM_001114753.2:c.811A>T , LRG_589t2:c.811A>T	NP_001108225.1:p.Ile271Phe
NM_001278138.1:c.265A>T	NP_001265067.1:p.Ile89Phe
NM_001114753.3:c.811A>T MANE Select	NP_001108225.1:p.Ile271Phe
NM_001278138.2:c.265A>T	NP_001265067.1:p.Ile89Phe