Canonical Allele Identifier: CA200319746

Gene: ENG

Linked Data

• dbSNP Id: rs1056700315
• MyVariant Identifiers: chr9:g.127840051G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127840051G>A , CM000671.2:g.127840051G>A	GRCh38
NC_000009.11:g.130602330G>A , CM000671.1:g.130602330G>A	GRCh37
NC_000009.10:g.129642151G>A	NCBI36
NG_009551.1:g.19718C>T , LRG_589:g.19718C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.-328+3043C>T	ENSP00000479015.1:n.-328+3043C>T
ENST00000373203.9:c.219+3043C>T MANE Select	ENSP00000362299.4:n.219+3043C>T
ENST00000344849.4:c.219+3043C>T	ENSP00000341917.3:n.219+3043C>T
ENST00000373203.8:c.219+3043C>T	ENSP00000362299.4:n.219+3043C>T
ENST00000480266.5:c.-328+3043C>T	ENSP00000479015.1:n.-328+3043C>T
NM_000118.3:c.219+3043C>T , LRG_589t1:c.219+3043C>T	NP_000109.1:n.219+3043C>T
NM_001114753.2:c.219+3043C>T , LRG_589t2:c.219+3043C>T	NP_001108225.1:n.219+3043C>T
NM_001278138.1:c.-328+3043C>T	NP_001265067.1:n.-328+3043C>T
NM_001114753.3:c.219+3043C>T MANE Select	NP_001108225.1:n.219+3043C>T
NM_001278138.2:c.-328+3043C>T	NP_001265067.1:n.-328+3043C>T