Canonical Allele Identifier: CA860194237

Gene: ENG

Linked Data

• dbSNP Id: rs1179094494
• MyVariant Identifiers: chr9:g.130582472C>T (hg19) ; chr9:g.127820193C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127820193C>T , CM000671.2:g.127820193C>T	GRCh38
NC_000009.11:g.130582472C>T , CM000671.1:g.130582472C>T	GRCh37
NC_000009.10:g.129622293C>T	NCBI36
NG_009551.1:g.39576G>A , LRG_589:g.39576G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.589-156G>A	ENSP00000479015.1:n.589-156G>A
ENST00000373203.9:c.1135-156G>A MANE Select	ENSP00000362299.4:n.1135-156G>A
ENST00000344849.4:c.1135-156G>A	ENSP00000341917.3:n.1135-156G>A
ENST00000373203.8:c.1135-156G>A	ENSP00000362299.4:n.1135-156G>A
ENST00000480266.5:c.589-156G>A	ENSP00000479015.1:n.589-156G>A
ENST00000486329.1:n.103-156G>A
NM_000118.3:c.1135-156G>A , LRG_589t1:c.1135-156G>A	NP_000109.1:n.1135-156G>A
NM_001114753.2:c.1135-156G>A , LRG_589t2:c.1135-156G>A	NP_001108225.1:n.1135-156G>A
NM_001278138.1:c.589-156G>A	NP_001265067.1:n.589-156G>A
NR_136302.1:n.1569-1002C>T
NM_001114753.3:c.1135-156G>A MANE Select	NP_001108225.1:n.1135-156G>A
NM_001278138.2:c.589-156G>A	NP_001265067.1:n.589-156G>A