Canonical Allele Identifier: CA374982277
Community Standard Title: NM_001114753.3(ENG):c.923C>A (p.Ala308Asp)
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127824868G>T , CM000671.2:g.127824868G>T GRCh38
NC_000009.11:g.130587147G>T , CM000671.1:g.130587147G>T GRCh37
NC_000009.10:g.129626968G>T NCBI36
NG_009551.1:g.34901C>A , LRG_589:g.34901C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001114753.3:c.923C>A MANE Select NP_001108225.1:p.Ala308Asp
ENST00000373203.9:c.923C>A MANE Select ENSP00000362299.4:p.Ala308Asp
NM_000118.3:c.923C>A , LRG_589t1:c.923C>A NP_000109.1:p.Ala308Asp
NM_001114753.2:c.923C>A , LRG_589t2:c.923C>A NP_001108225.1:p.Ala308Asp
NM_001278138.1:c.377C>A NP_001265067.1:p.Ala126Asp
NM_001278138.2:c.377C>A NP_001265067.1:p.Ala126Asp
ENST00000344849.4:c.923C>A ENSP00000341917.3:p.Ala308Asp
ENST00000373203.8:c.923C>A ENSP00000362299.4:p.Ala308Asp
ENST00000480266.5:c.377C>A ENSP00000479015.1:p.Ala126Asp
ENST00000480266.6:c.377C>A ENSP00000479015.1:p.Ala126Asp