Canonical Allele Identifier: CA374978230

Gene: ENG

Linked Data

• MyVariant Identifiers: chr9:g.130582181C>T (hg19) ; chr9:g.127819902C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127819902C>T , CM000671.2:g.127819902C>T	GRCh38
NC_000009.11:g.130582181C>T , CM000671.1:g.130582181C>T	GRCh37
NC_000009.10:g.129622002C>T	NCBI36
NG_009551.1:g.39867G>A , LRG_589:g.39867G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.724G>A	ENSP00000479015.1:p.Glu242Lys
ENST00000373203.9:c.1270G>A MANE Select	ENSP00000362299.4:p.Glu424Lys
ENST00000344849.4:c.1270G>A	ENSP00000341917.3:p.Glu424Lys
ENST00000373203.8:c.1270G>A	ENSP00000362299.4:p.Glu424Lys
ENST00000480266.5:c.724G>A	ENSP00000479015.1:p.Glu242Lys
ENST00000486329.1:n.238G>A
NM_000118.3:c.1270G>A , LRG_589t1:c.1270G>A	NP_000109.1:p.Glu424Lys
NM_001114753.2:c.1270G>A , LRG_589t2:c.1270G>A	NP_001108225.1:p.Glu424Lys
NM_001278138.1:c.724G>A	NP_001265067.1:p.Glu242Lys
NR_136302.1:n.1568+1191C>T
NM_001114753.3:c.1270G>A MANE Select	NP_001108225.1:p.Glu424Lys
NM_001278138.2:c.724G>A	NP_001265067.1:p.Glu242Lys