Canonical Allele Identifier: CA1879989518
Gene: ENG HGNC NCBI

Linked Data

dbSNP Id: rs1830431171

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127819889C>T , CM000671.2:g.127819889C>T GRCh38
NC_000009.11:g.130582168C>T , CM000671.1:g.130582168C>T GRCh37
NC_000009.10:g.129621989C>T NCBI36
NG_009551.1:g.39880G>A , LRG_589:g.39880G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000480266.6:c.726+11G>A ENSP00000479015.1:n.726+11G>A
ENST00000373203.9:c.1272+11G>A MANE Select ENSP00000362299.4:n.1272+11G>A
ENST00000344849.4:c.1272+11G>A ENSP00000341917.3:n.1272+11G>A
ENST00000373203.8:c.1272+11G>A ENSP00000362299.4:n.1272+11G>A
ENST00000480266.5:c.726+11G>A ENSP00000479015.1:n.726+11G>A
ENST00000486329.1:n.240+11G>A
NM_000118.3:c.1272+11G>A , LRG_589t1:c.1272+11G>A NP_000109.1:n.1272+11G>A
NM_001114753.2:c.1272+11G>A , LRG_589t2:c.1272+11G>A NP_001108225.1:n.1272+11G>A
NM_001278138.1:c.726+11G>A NP_001265067.1:n.726+11G>A
NR_136302.1:n.1568+1178C>T
NM_001114753.3:c.1272+11G>A MANE Select NP_001108225.1:n.1272+11G>A
NM_001278138.2:c.726+11G>A NP_001265067.1:n.726+11G>A