Canonical Allele Identifier: CA5253119

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127826591C>G , CM000671.2:g.127826591C>G	GRCh38
NC_000009.11:g.130588870C>G , CM000671.1:g.130588870C>G	GRCh37
NC_000009.10:g.129628691C>G	NCBI36
NG_009551.1:g.33178G>C , LRG_589:g.33178G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001114753.3:c.442G>C MANE Select	NP_001108225.1:p.Glu148Gln
ENST00000373203.9:c.442G>C MANE Select	ENSP00000362299.4:p.Glu148Gln
NM_000118.3:c.442G>C , LRG_589t1:c.442G>C	NP_000109.1:p.Glu148Gln
NM_001114753.2:c.442G>C , LRG_589t2:c.442G>C	NP_001108225.1:p.Glu148Gln
NM_001278138.1:c.-105G>C	NP_001265067.1:n.-105G>C
NM_001278138.2:c.-105G>C	NP_001265067.1:n.-105G>C
ENST00000344849.4:c.442G>C	ENSP00000341917.3:p.Glu148Gln
ENST00000373203.8:c.442G>C	ENSP00000362299.4:p.Glu148Gln
ENST00000462196.1:n.342G>C
ENST00000480266.5:c.-105G>C	ENSP00000479015.1:n.-105G>C
ENST00000480266.6:c.-105G>C	ENSP00000479015.1:n.-105G>C
XR_001746952.2:n.82+1133C>G