Canonical Allele Identifier: CA5253184
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 365096
dbSNP Id: rs756342212

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127829833G>T , CM000671.2:g.127829833G>T GRCh38
NC_000009.11:g.130592112G>T , CM000671.1:g.130592112G>T GRCh37
NC_000009.10:g.129631933G>T NCBI36
NG_009551.1:g.29936C>A , LRG_589:g.29936C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.-327-6C>A ENSP00000479015.1:n.-327-6C>A
ENST00000373203.9:c.220-6C>A MANE Select ENSP00000362299.4:n.220-6C>A
ENST00000344849.4:c.220-6C>A ENSP00000341917.3:n.220-6C>A
ENST00000373203.8:c.220-6C>A ENSP00000362299.4:n.220-6C>A
ENST00000480266.5:c.-327-6C>A ENSP00000479015.1:n.-327-6C>A
NM_000118.3:c.220-6C>A , LRG_589t1:c.220-6C>A NP_000109.1:n.220-6C>A
NM_001114753.2:c.220-6C>A , LRG_589t2:c.220-6C>A NP_001108225.1:n.220-6C>A
NM_001278138.1:c.-327-6C>A NP_001265067.1:n.-327-6C>A
XR_001746952.2:n.83-2565G>T
NM_001114753.3:c.220-6C>A MANE Select NP_001108225.1:n.220-6C>A
NM_001278138.2:c.-327-6C>A NP_001265067.1:n.-327-6C>A