Canonical Allele Identifier: CA374970419

Gene: ENG

Linked Data

• dbSNP Id: rs1830292921
• gnomAD v4: 9-127815762-C-T
• MyVariant Identifiers: chr9:g.130578041C>T (hg19) ; chr9:g.127815762C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815762C>T , CM000671.2:g.127815762C>T	GRCh38
NC_000009.11:g.130578041C>T , CM000671.1:g.130578041C>T	GRCh37
NC_000009.10:g.129617862C>T	NCBI36
NG_009551.1:g.44007G>A , LRG_589:g.44007G>A
NG_023245.1:g.17888C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1351G>A	ENSP00000479015.1:p.Ala451Thr
ENST00000373203.9:c.1897G>A MANE Select	ENSP00000362299.4:p.Ala633Thr
ENST00000344849.4:c.*155G>A	ENSP00000341917.3:n.*155G>A
ENST00000373203.8:c.1897G>A	ENSP00000362299.4:p.Ala633Thr
ENST00000480266.5:c.1351G>A	ENSP00000479015.1:p.Ala451Thr
NM_000118.3:c.*155G>A , LRG_589t1:c.*155G>A	NP_000109.1:n.*155G>A
NM_001114753.2:c.1897G>A , LRG_589t2:c.1897G>A	NP_001108225.1:p.Ala633Thr
NM_001278138.1:c.1351G>A	NP_001265067.1:p.Ala451Thr
NM_001114753.3:c.1897G>A MANE Select	NP_001108225.1:p.Ala633Thr
NM_001278138.2:c.1351G>A	NP_001265067.1:p.Ala451Thr