Canonical Allele Identifier: CA374983451
Gene: ENG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127825346A>G , CM000671.2:g.127825346A>G GRCh38
NC_000009.11:g.130587625A>G , CM000671.1:g.130587625A>G GRCh37
NC_000009.10:g.129627446A>G NCBI36
NG_009551.1:g.34423T>C , LRG_589:g.34423T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.155T>C ENSP00000479015.1:p.Val52Ala
ENST00000373203.9:c.701T>C MANE Select ENSP00000362299.4:p.Val234Ala
ENST00000344849.4:c.701T>C ENSP00000341917.3:p.Val234Ala
ENST00000373203.8:c.701T>C ENSP00000362299.4:p.Val234Ala
ENST00000480266.5:c.155T>C ENSP00000479015.1:p.Val52Ala
NM_000118.3:c.701T>C , LRG_589t1:c.701T>C NP_000109.1:p.Val234Ala
NM_001114753.2:c.701T>C , LRG_589t2:c.701T>C NP_001108225.1:p.Val234Ala
NM_001278138.1:c.155T>C NP_001265067.1:p.Val52Ala
NM_001114753.3:c.701T>C MANE Select NP_001108225.1:p.Val234Ala
NM_001278138.2:c.155T>C NP_001265067.1:p.Val52Ala