Canonical Allele Identifier: CA374982533
Gene: ENG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127824905G>C , CM000671.2:g.127824905G>C GRCh38
NC_000009.11:g.130587184G>C , CM000671.1:g.130587184G>C GRCh37
NC_000009.10:g.129627005G>C NCBI36
NG_009551.1:g.34864C>G , LRG_589:g.34864C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.340C>G ENSP00000479015.1:p.Pro114Ala
ENST00000373203.9:c.886C>G MANE Select ENSP00000362299.4:p.Pro296Ala
ENST00000344849.4:c.886C>G ENSP00000341917.3:p.Pro296Ala
ENST00000373203.8:c.886C>G ENSP00000362299.4:p.Pro296Ala
ENST00000480266.5:c.340C>G ENSP00000479015.1:p.Pro114Ala
NM_000118.3:c.886C>G , LRG_589t1:c.886C>G NP_000109.1:p.Pro296Ala
NM_001114753.2:c.886C>G , LRG_589t2:c.886C>G NP_001108225.1:p.Pro296Ala
NM_001278138.1:c.340C>G NP_001265067.1:p.Pro114Ala
NM_001114753.3:c.886C>G MANE Select NP_001108225.1:p.Pro296Ala
NM_001278138.2:c.340C>G NP_001265067.1:p.Pro114Ala