Canonical Allele Identifier: CA5253269
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 414302
dbSNP Id: rs368423516

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127854364C>T , CM000671.2:g.127854364C>T GRCh38
NC_000009.11:g.130616643C>T , CM000671.1:g.130616643C>T GRCh37
NC_000009.10:g.129656464C>T NCBI36
NG_009551.1:g.5405G>A , LRG_589:g.5405G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000373203.9:c.-9G>A MANE Select ENSP00000362299.4:n.-9G>A
ENST00000344849.4:c.-9G>A ENSP00000341917.3:n.-9G>A
ENST00000373203.8:c.-9G>A ENSP00000362299.4:n.-9G>A
NM_000118.3:c.-9G>A , LRG_589t1:c.-9G>A NP_000109.1:n.-9G>A
NM_001114753.2:c.-9G>A , LRG_589t2:c.-9G>A NP_001108225.1:n.-9G>A
NM_001114753.3:c.-9G>A MANE Select NP_001108225.1:n.-9G>A