Canonical Allele Identifier: CA374982588
Gene: ENG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127824916A>T , CM000671.2:g.127824916A>T GRCh38
NC_000009.11:g.130587195A>T , CM000671.1:g.130587195A>T GRCh37
NC_000009.10:g.129627016A>T NCBI36
NG_009551.1:g.34853T>A , LRG_589:g.34853T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.329T>A ENSP00000479015.1:p.Leu110His
ENST00000373203.9:c.875T>A MANE Select ENSP00000362299.4:p.Leu292His
ENST00000344849.4:c.875T>A ENSP00000341917.3:p.Leu292His
ENST00000373203.8:c.875T>A ENSP00000362299.4:p.Leu292His
ENST00000480266.5:c.329T>A ENSP00000479015.1:p.Leu110His
NM_000118.3:c.875T>A , LRG_589t1:c.875T>A NP_000109.1:p.Leu292His
NM_001114753.2:c.875T>A , LRG_589t2:c.875T>A NP_001108225.1:p.Leu292His
NM_001278138.1:c.329T>A NP_001265067.1:p.Leu110His
NM_001114753.3:c.875T>A MANE Select NP_001108225.1:p.Leu292His
NM_001278138.2:c.329T>A NP_001265067.1:p.Leu110His