Canonical Allele Identifier: CA1879998561

Gene: ENG

Linked Data

• dbSNP Id: rs1588604462

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127854246A>C , CM000671.2:g.127854246A>C	GRCh38
NC_000009.11:g.130616525A>C , CM000671.1:g.130616525A>C	GRCh37
NC_000009.10:g.129656346A>C	NCBI36
NG_009551.1:g.5523T>G , LRG_589:g.5523T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373203.9:c.67+43T>G MANE Select	ENSP00000362299.4:n.67+43T>G
ENST00000344849.4:c.67+43T>G	ENSP00000341917.3:n.67+43T>G
ENST00000373203.8:c.67+43T>G	ENSP00000362299.4:n.67+43T>G
NM_000118.3:c.67+43T>G , LRG_589t1:c.67+43T>G	NP_000109.1:n.67+43T>G
NM_001114753.2:c.67+43T>G , LRG_589t2:c.67+43T>G	NP_001108225.1:n.67+43T>G
NM_001114753.3:c.67+43T>G MANE Select	NP_001108225.1:n.67+43T>G