Canonical Allele Identifier: CA5252891

Gene: ENG

Linked Data

• ClinVar Variation Id: 528063
• ClinVar RCV Id: RCV000633143 ; RCV001771854
• dbSNP Id: rs138190783
• ExAC: 9:130586650 A / T
• gnomAD v2: 9-130586650-A-T
• gnomAD v3: 9-127824371-A-T
• gnomAD v4: 9-127824371-A-T
• MyVariant Identifiers: chr9:g.130586650A>T (hg19) ; chr9:g.127824371A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824371A>T , CM000671.2:g.127824371A>T	GRCh38
NC_000009.11:g.130586650A>T , CM000671.1:g.130586650A>T	GRCh37
NC_000009.10:g.129626471A>T	NCBI36
NG_009551.1:g.35398T>A , LRG_589:g.35398T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.521T>A	ENSP00000479015.1:p.Met174Lys
ENST00000373203.9:c.1067T>A MANE Select	ENSP00000362299.4:p.Met356Lys
ENST00000344849.4:c.1067T>A	ENSP00000341917.3:p.Met356Lys
ENST00000373203.8:c.1067T>A	ENSP00000362299.4:p.Met356Lys
ENST00000480266.5:c.521T>A	ENSP00000479015.1:p.Met174Lys
ENST00000486329.1:n.35T>A
NM_000118.3:c.1067T>A , LRG_589t1:c.1067T>A	NP_000109.1:p.Met356Lys
NM_001114753.2:c.1067T>A , LRG_589t2:c.1067T>A	NP_001108225.1:p.Met356Lys
NM_001278138.1:c.521T>A	NP_001265067.1:p.Met174Lys
NM_001114753.3:c.1067T>A MANE Select	NP_001108225.1:p.Met356Lys
NM_001278138.2:c.521T>A	NP_001265067.1:p.Met174Lys