Canonical Allele Identifier: CA467228038
Gene: ENG HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.130582251A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127819972A>C , CM000671.2:g.127819972A>C GRCh38
NC_000009.11:g.130582251A>C , CM000671.1:g.130582251A>C GRCh37
NC_000009.10:g.129622072A>C NCBI36
NG_009551.1:g.39797T>G , LRG_589:g.39797T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.654T>G ENSP00000479015.1:p.Gly218=
ENST00000373203.9:c.1200T>G MANE Select ENSP00000362299.4:p.Gly400=
ENST00000344849.4:c.1200T>G ENSP00000341917.3:p.Gly400=
ENST00000373203.8:c.1200T>G ENSP00000362299.4:p.Gly400=
ENST00000480266.5:c.654T>G ENSP00000479015.1:p.Gly218=
ENST00000486329.1:n.168T>G
NM_000118.3:c.1200T>G , LRG_589t1:c.1200T>G NP_000109.1:p.Gly400=
NM_001114753.2:c.1200T>G , LRG_589t2:c.1200T>G NP_001108225.1:p.Gly400=
NM_001278138.1:c.654T>G NP_001265067.1:p.Gly218=
NR_136302.1:n.1569-1223A>C
NM_001114753.3:c.1200T>G MANE Select NP_001108225.1:p.Gly400=
NM_001278138.2:c.654T>G NP_001265067.1:p.Gly218=