Canonical Allele Identifier: CA1129279531

Gene: ENG

Linked Data

• dbSNP Id: rs1830558064
• gnomAD v3: 9-127824648-T-C
• gnomAD v4: 9-127824648-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824648T>C , CM000671.2:g.127824648T>C	GRCh38
NC_000009.11:g.130586927T>C , CM000671.1:g.130586927T>C	GRCh37
NC_000009.10:g.129626748T>C	NCBI36
NG_009551.1:g.35121A>G , LRG_589:g.35121A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.445+152A>G	ENSP00000479015.1:n.445+152A>G
ENST00000373203.9:c.991+152A>G MANE Select	ENSP00000362299.4:n.991+152A>G
ENST00000344849.4:c.991+152A>G	ENSP00000341917.3:n.991+152A>G
ENST00000373203.8:c.991+152A>G	ENSP00000362299.4:n.991+152A>G
ENST00000480266.5:c.445+152A>G	ENSP00000479015.1:n.445+152A>G
NM_000118.3:c.991+152A>G , LRG_589t1:c.991+152A>G	NP_000109.1:n.991+152A>G
NM_001114753.2:c.991+152A>G , LRG_589t2:c.991+152A>G	NP_001108225.1:n.991+152A>G
NM_001278138.1:c.445+152A>G	NP_001265067.1:n.445+152A>G
NM_001114753.3:c.991+152A>G MANE Select	NP_001108225.1:n.991+152A>G
NM_001278138.2:c.445+152A>G	NP_001265067.1:n.445+152A>G