Canonical Allele Identifier: CA374989559
Gene: ENG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127854306C>G , CM000671.2:g.127854306C>G GRCh38
NC_000009.11:g.130616585C>G , CM000671.1:g.130616585C>G GRCh37
NC_000009.10:g.129656406C>G NCBI36
NG_009551.1:g.5463G>C , LRG_589:g.5463G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373203.9:c.50G>C MANE Select ENSP00000362299.4:p.Cys17Ser
ENST00000344849.4:c.50G>C ENSP00000341917.3:p.Cys17Ser
ENST00000373203.8:c.50G>C ENSP00000362299.4:p.Cys17Ser
NM_000118.3:c.50G>C , LRG_589t1:c.50G>C NP_000109.1:p.Cys17Ser
NM_001114753.2:c.50G>C , LRG_589t2:c.50G>C NP_001108225.1:p.Cys17Ser
NM_001114753.3:c.50G>C MANE Select NP_001108225.1:p.Cys17Ser