Canonical Allele Identifier: CA390853594
Gene: SERPINA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.94614578A>T , CM000676.2:g.94614578A>T GRCh38
NC_000014.8:g.95080915A>T , CM000676.1:g.95080915A>T GRCh37
NC_000014.7:g.94150668A>T NCBI36
NG_012879.1:g.7202A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393078.5:c.137A>T MANE Select ENSP00000376793.3:p.Asp46Val
ENST00000393078.4:c.137A>T ENSP00000376793.3:p.Asp46Val
ENST00000393080.8:c.137A>T ENSP00000376795.4:p.Asp46Val
ENST00000467132.5:c.137A>T ENSP00000450540.1:p.Asp46Val
ENST00000553947.1:c.1100A>T
ENST00000555820.1:c.137A>T ENSP00000452246.3:p.Asp46Val
ENST00000556388.1:n.57+2131A>T
ENST00000556968.2:c.137A>T ENSP00000452476.1:p.Asp46Val
NM_001085.4:c.137A>T NP_001076.2:p.Asp46Val
NM_001085.5:c.137A>T MANE Select NP_001076.2:p.Asp46Val
NM_001384672.1:c.137A>T NP_001371601.1:p.Asp46Val
NM_001384673.1:c.137A>T NP_001371602.1:p.Asp46Val
NM_001384674.1:c.137A>T NP_001371603.1:p.Asp46Val