Canonical Allele Identifier: CA2691810728
Gene: ENG HGNC NCBI

Linked Data

dbSNP Id: rs2131936905
gnomAD v4: 9-127854483-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127854483T>C , CM000671.2:g.127854483T>C GRCh38
NC_000009.11:g.130616762T>C , CM000671.1:g.130616762T>C GRCh37
NC_000009.10:g.129656583T>C NCBI36
NG_009551.1:g.5286A>G , LRG_589:g.5286A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000373203.9:c.-128A>G MANE Select ENSP00000362299.4:n.-128A>G
ENST00000344849.4:c.-128A>G ENSP00000341917.3:n.-128A>G
ENST00000373203.8:c.-128A>G ENSP00000362299.4:n.-128A>G
NM_000118.3:c.-128A>G , LRG_589t1:c.-128A>G NP_000109.1:n.-128A>G
NM_001114753.2:c.-128A>G , LRG_589t2:c.-128A>G NP_001108225.1:n.-128A>G
NM_001114753.3:c.-128A>G MANE Select NP_001108225.1:n.-128A>G
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