Canonical Allele Identifier: CA374974153
Gene: ENG HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127818161A>C , CM000671.2:g.127818161A>C GRCh38
NC_000009.11:g.130580440A>C , CM000671.1:g.130580440A>C GRCh37
NC_000009.10:g.129620261A>C NCBI36
NG_009551.1:g.41608T>G , LRG_589:g.41608T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.1099T>G ENSP00000479015.1:p.Cys367Gly
ENST00000373203.9:c.1645T>G MANE Select ENSP00000362299.4:p.Cys549Gly
ENST00000344849.4:c.1645T>G ENSP00000341917.3:p.Cys549Gly
ENST00000373203.8:c.1645T>G ENSP00000362299.4:p.Cys549Gly
ENST00000480266.5:c.1099T>G ENSP00000479015.1:p.Cys367Gly
NM_000118.3:c.1645T>G , LRG_589t1:c.1645T>G NP_000109.1:p.Cys549Gly
NM_001114753.2:c.1645T>G , LRG_589t2:c.1645T>G NP_001108225.1:p.Cys549Gly
NM_001278138.1:c.1099T>G NP_001265067.1:p.Cys367Gly
NR_136302.1:n.1378-150A>C
NM_001114753.3:c.1645T>G MANE Select NP_001108225.1:p.Cys549Gly
NM_001278138.2:c.1099T>G NP_001265067.1:p.Cys367Gly
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