Canonical Allele Identifier: CA200314431

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127826509C>G , CM000671.2:g.127826509C>G	GRCh38
NC_000009.11:g.130588788C>G , CM000671.1:g.130588788C>G	GRCh37
NC_000009.10:g.129628609C>G	NCBI36
NG_009551.1:g.33260G>C , LRG_589:g.33260G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001114753.3:c.523+1G>C MANE Select	NP_001108225.1:n.523+1G>C
ENST00000373203.9:c.523+1G>C MANE Select	ENSP00000362299.4:n.523+1G>C
NM_000118.3:c.523+1G>C , LRG_589t1:c.523+1G>C	NP_000109.1:n.523+1G>C
NM_001114753.2:c.523+1G>C , LRG_589t2:c.523+1G>C	NP_001108225.1:n.523+1G>C
NM_001278138.1:c.-24+1G>C	NP_001265067.1:n.-24+1G>C
NM_001278138.2:c.-24+1G>C	NP_001265067.1:n.-24+1G>C
ENST00000344849.4:c.523+1G>C	ENSP00000341917.3:n.523+1G>C
ENST00000373203.8:c.523+1G>C	ENSP00000362299.4:n.523+1G>C
ENST00000462196.1:n.423+1G>C
ENST00000480266.5:c.-24+1G>C	ENSP00000479015.1:n.-24+1G>C
ENST00000480266.6:c.-24+1G>C	ENSP00000479015.1:n.-24+1G>C
XR_001746952.2:n.82+1051C>G