Canonical Allele Identifier: CA374984159

Gene: ENG

Linked Data

• MyVariant Identifiers: chr9:g.130588821T>G (hg19) ; chr9:g.127826542T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127826542T>G , CM000671.2:g.127826542T>G	GRCh38
NC_000009.11:g.130588821T>G , CM000671.1:g.130588821T>G	GRCh37
NC_000009.10:g.129628642T>G	NCBI36
NG_009551.1:g.33227A>C , LRG_589:g.33227A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.-56A>C	ENSP00000479015.1:n.-56A>C
ENST00000373203.9:c.491A>C MANE Select	ENSP00000362299.4:p.Asp164Ala
ENST00000344849.4:c.491A>C	ENSP00000341917.3:p.Asp164Ala
ENST00000373203.8:c.491A>C	ENSP00000362299.4:p.Asp164Ala
ENST00000462196.1:n.391A>C
ENST00000480266.5:c.-56A>C	ENSP00000479015.1:n.-56A>C
NM_000118.3:c.491A>C , LRG_589t1:c.491A>C	NP_000109.1:p.Asp164Ala
NM_001114753.2:c.491A>C , LRG_589t2:c.491A>C	NP_001108225.1:p.Asp164Ala
NM_001278138.1:c.-56A>C	NP_001265067.1:n.-56A>C
XR_001746952.2:n.82+1084T>G
NM_001114753.3:c.491A>C MANE Select	NP_001108225.1:p.Asp164Ala
NM_001278138.2:c.-56A>C	NP_001265067.1:n.-56A>C