Canonical Allele Identifier: CA374970417
Gene: ENG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127815762C>G , CM000671.2:g.127815762C>G GRCh38
NC_000009.11:g.130578041C>G , CM000671.1:g.130578041C>G GRCh37
NC_000009.10:g.129617862C>G NCBI36
NG_009551.1:g.44007G>C , LRG_589:g.44007G>C
NG_023245.1:g.17888C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.1351G>C ENSP00000479015.1:p.Ala451Pro
ENST00000373203.9:c.1897G>C MANE Select ENSP00000362299.4:p.Ala633Pro
ENST00000344849.4:c.*155G>C ENSP00000341917.3:n.*155G>C
ENST00000373203.8:c.1897G>C ENSP00000362299.4:p.Ala633Pro
ENST00000480266.5:c.1351G>C ENSP00000479015.1:p.Ala451Pro
NM_000118.3:c.*155G>C , LRG_589t1:c.*155G>C NP_000109.1:n.*155G>C
NM_001114753.2:c.1897G>C , LRG_589t2:c.1897G>C NP_001108225.1:p.Ala633Pro
NM_001278138.1:c.1351G>C NP_001265067.1:p.Ala451Pro
NM_001114753.3:c.1897G>C MANE Select NP_001108225.1:p.Ala633Pro
NM_001278138.2:c.1351G>C NP_001265067.1:p.Ala451Pro