Canonical Allele Identifier: CA2840533205
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127815825G>T , CM000671.2:g.127815825G>T GRCh38
NC_000009.11:g.130578104G>T , CM000671.1:g.130578104G>T GRCh37
NC_000009.10:g.129617925G>T NCBI36
NG_009551.1:g.43944C>A , LRG_589:g.43944C>A
NG_023245.1:g.17951G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.1307-19C>A ENSP00000479015.1:n.1307-19C>A
ENST00000373203.9:c.1853-19C>A MANE Select ENSP00000362299.4:n.1853-19C>A
ENST00000344849.4:c.*92C>A ENSP00000341917.3:n.*92C>A
ENST00000373203.8:c.1853-19C>A ENSP00000362299.4:n.1853-19C>A
ENST00000480266.5:c.1307-19C>A ENSP00000479015.1:n.1307-19C>A
NM_000118.3:c.*92C>A , LRG_589t1:c.*92C>A NP_000109.1:n.*92C>A
NM_001114753.2:c.1853-19C>A , LRG_589t2:c.1853-19C>A NP_001108225.1:n.1853-19C>A
NM_001278138.1:c.1307-19C>A NP_001265067.1:n.1307-19C>A
NM_001114753.3:c.1853-19C>A MANE Select NP_001108225.1:n.1853-19C>A
NM_001278138.2:c.1307-19C>A NP_001265067.1:n.1307-19C>A