Canonical Allele Identifier: CA374981918

Gene: ENG

Linked Data

• MyVariant Identifiers: chr9:g.130587087G>A (hg19) ; chr9:g.127824808G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824808G>A , CM000671.2:g.127824808G>A	GRCh38
NC_000009.11:g.130587087G>A , CM000671.1:g.130587087G>A	GRCh37
NC_000009.10:g.129626908G>A	NCBI36
NG_009551.1:g.34961C>T , LRG_589:g.34961C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.437C>T	ENSP00000479015.1:p.Ser146Phe
ENST00000373203.9:c.983C>T MANE Select	ENSP00000362299.4:p.Ser328Phe
ENST00000344849.4:c.983C>T	ENSP00000341917.3:p.Ser328Phe
ENST00000373203.8:c.983C>T	ENSP00000362299.4:p.Ser328Phe
ENST00000480266.5:c.437C>T	ENSP00000479015.1:p.Ser146Phe
NM_000118.3:c.983C>T , LRG_589t1:c.983C>T	NP_000109.1:p.Ser328Phe
NM_001114753.2:c.983C>T , LRG_589t2:c.983C>T	NP_001108225.1:p.Ser328Phe
NM_001278138.1:c.437C>T	NP_001265067.1:p.Ser146Phe
NM_001114753.3:c.983C>T MANE Select	NP_001108225.1:p.Ser328Phe
NM_001278138.2:c.437C>T	NP_001265067.1:p.Ser146Phe