Canonical Allele Identifier: CA467474713
Gene: ENG HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.130578357A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127816078A>T , CM000671.2:g.127816078A>T GRCh38
NC_000009.11:g.130578357A>T , CM000671.1:g.130578357A>T GRCh37
NC_000009.10:g.129618178A>T NCBI36
NG_009551.1:g.43691T>A , LRG_589:g.43691T>A
NG_023245.1:g.18204A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.1196-25T>A ENSP00000479015.1:n.1196-25T>A
ENST00000373203.9:c.1742-25T>A MANE Select ENSP00000362299.4:n.1742-25T>A
ENST00000344849.4:c.1742-25T>A ENSP00000341917.3:n.1742-25T>A
ENST00000373203.8:c.1742-25T>A ENSP00000362299.4:n.1742-25T>A
ENST00000480266.5:c.1196-25T>A ENSP00000479015.1:n.1196-25T>A
NM_000118.3:c.1742-25T>A , LRG_589t1:c.1742-25T>A NP_000109.1:n.1742-25T>A
NM_001114753.2:c.1742-25T>A , LRG_589t2:c.1742-25T>A NP_001108225.1:n.1742-25T>A
NM_001278138.1:c.1196-25T>A NP_001265067.1:n.1196-25T>A
XM_011519273.1:c.-501A>T XP_011517575.1:n.-501A>T
NR_136302.1:n.13A>T
NM_001114753.3:c.1742-25T>A MANE Select NP_001108225.1:n.1742-25T>A
NM_001278138.2:c.1196-25T>A NP_001265067.1:n.1196-25T>A