Canonical Allele Identifier: CA374984252
Gene: ENG HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.130588865C>A (hg19) chr9:g.127826586C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127826586C>A , CM000671.2:g.127826586C>A GRCh38
NC_000009.11:g.130588865C>A , CM000671.1:g.130588865C>A GRCh37
NC_000009.10:g.129628686C>A NCBI36
NG_009551.1:g.33183G>T , LRG_589:g.33183G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.-100G>T ENSP00000479015.1:n.-100G>T
ENST00000373203.9:c.447G>T MANE Select ENSP00000362299.4:p.Trp149Cys
ENST00000344849.4:c.447G>T ENSP00000341917.3:p.Trp149Cys
ENST00000373203.8:c.447G>T ENSP00000362299.4:p.Trp149Cys
ENST00000462196.1:n.347G>T
ENST00000480266.5:c.-100G>T ENSP00000479015.1:n.-100G>T
NM_000118.3:c.447G>T , LRG_589t1:c.447G>T NP_000109.1:p.Trp149Cys
NM_001114753.2:c.447G>T , LRG_589t2:c.447G>T NP_001108225.1:p.Trp149Cys
NM_001278138.1:c.-100G>T NP_001265067.1:n.-100G>T
XR_001746952.2:n.82+1128C>A
NM_001114753.3:c.447G>T MANE Select NP_001108225.1:p.Trp149Cys
NM_001278138.2:c.-100G>T NP_001265067.1:n.-100G>T
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