Canonical Allele Identifier: CA374985824

Gene: ENG

Linked Data

• MyVariant Identifiers: chr9:g.130591998G>T (hg19) ; chr9:g.127829719G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127829719G>T , CM000671.2:g.127829719G>T	GRCh38
NC_000009.11:g.130591998G>T , CM000671.1:g.130591998G>T	GRCh37
NC_000009.10:g.129631819G>T	NCBI36
NG_009551.1:g.30050C>A , LRG_589:g.30050C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.-219C>A	ENSP00000479015.1:n.-219C>A
ENST00000373203.9:c.328C>A MANE Select	ENSP00000362299.4:p.Gln110Lys
ENST00000344849.4:c.328C>A	ENSP00000341917.3:p.Gln110Lys
ENST00000373203.8:c.328C>A	ENSP00000362299.4:p.Gln110Lys
ENST00000462196.1:n.86C>A
ENST00000480266.5:c.-219C>A	ENSP00000479015.1:n.-219C>A
NM_000118.3:c.328C>A , LRG_589t1:c.328C>A	NP_000109.1:p.Gln110Lys
NM_001114753.2:c.328C>A , LRG_589t2:c.328C>A	NP_001108225.1:p.Gln110Lys
NM_001278138.1:c.-219C>A	NP_001265067.1:n.-219C>A
XR_001746952.2:n.83-2679G>T
NM_001114753.3:c.328C>A MANE Select	NP_001108225.1:p.Gln110Lys
NM_001278138.2:c.-219C>A	NP_001265067.1:n.-219C>A