Canonical Allele Identifier: CA2691808318

Gene: ENG

Linked Data

• gnomAD v4: 9-127824557-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824557T>G , CM000671.2:g.127824557T>G	GRCh38
NC_000009.11:g.130586836T>G , CM000671.1:g.130586836T>G	GRCh37
NC_000009.10:g.129626657T>G	NCBI36
NG_009551.1:g.35212A>C , LRG_589:g.35212A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.446-111A>C	ENSP00000479015.1:n.446-111A>C
ENST00000373203.9:c.992-111A>C MANE Select	ENSP00000362299.4:n.992-111A>C
ENST00000344849.4:c.992-111A>C	ENSP00000341917.3:n.992-111A>C
ENST00000373203.8:c.992-111A>C	ENSP00000362299.4:n.992-111A>C
ENST00000480266.5:c.446-111A>C	ENSP00000479015.1:n.446-111A>C
NM_000118.3:c.992-111A>C , LRG_589t1:c.992-111A>C	NP_000109.1:n.992-111A>C
NM_001114753.2:c.992-111A>C , LRG_589t2:c.992-111A>C	NP_001108225.1:n.992-111A>C
NM_001278138.1:c.446-111A>C	NP_001265067.1:n.446-111A>C
NM_001114753.3:c.992-111A>C MANE Select	NP_001108225.1:n.992-111A>C
NM_001278138.2:c.446-111A>C	NP_001265067.1:n.446-111A>C