Canonical Allele Identifier: CA374983360

Gene: ENG

Linked Data

• MyVariant Identifiers: chr9:g.130587580G>T (hg19) ; chr9:g.127825301G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825301G>T , CM000671.2:g.127825301G>T	GRCh38
NC_000009.11:g.130587580G>T , CM000671.1:g.130587580G>T	GRCh37
NC_000009.10:g.129627401G>T	NCBI36
NG_009551.1:g.34468C>A , LRG_589:g.34468C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.200C>A	ENSP00000479015.1:p.Ala67Asp
ENST00000373203.9:c.746C>A MANE Select	ENSP00000362299.4:p.Ala249Asp
ENST00000344849.4:c.746C>A	ENSP00000341917.3:p.Ala249Asp
ENST00000373203.8:c.746C>A	ENSP00000362299.4:p.Ala249Asp
ENST00000480266.5:c.200C>A	ENSP00000479015.1:p.Ala67Asp
NM_000118.3:c.746C>A , LRG_589t1:c.746C>A	NP_000109.1:p.Ala249Asp
NM_001114753.2:c.746C>A , LRG_589t2:c.746C>A	NP_001108225.1:p.Ala249Asp
NM_001278138.1:c.200C>A	NP_001265067.1:p.Ala67Asp
NM_001114753.3:c.746C>A MANE Select	NP_001108225.1:p.Ala249Asp
NM_001278138.2:c.200C>A	NP_001265067.1:p.Ala67Asp