Canonical Allele Identifier: CA390855871
Gene: SERPINA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.94619318A>T , CM000676.2:g.94619318A>T GRCh38
NC_000014.8:g.95085655A>T , CM000676.1:g.95085655A>T GRCh37
NC_000014.7:g.94155408A>T NCBI36
NG_012879.1:g.11942A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000393078.5:c.767A>T MANE Select ENSP00000376793.3:p.Asp256Val
ENST00000393078.4:c.767A>T ENSP00000376793.3:p.Asp256Val
ENST00000393080.8:c.767A>T ENSP00000376795.4:p.Asp256Val
ENST00000467132.5:c.767A>T ENSP00000450540.1:p.Asp256Val
ENST00000482740.2:c.113A>T ENSP00000451119.1:p.Asp38Val
ENST00000553947.1:c.1730A>T
ENST00000555820.1:c.767A>T ENSP00000452246.3:p.Asp256Val
ENST00000556388.1:n.58-3023A>T
ENST00000556968.2:c.644-3023A>T ENSP00000452476.1:n.644-3023A>T
NM_001085.4:c.767A>T NP_001076.2:p.Asp256Val
NM_001085.5:c.767A>T MANE Select NP_001076.2:p.Asp256Val
NM_001384672.1:c.767A>T NP_001371601.1:p.Asp256Val
NM_001384673.1:c.767A>T NP_001371602.1:p.Asp256Val
NM_001384674.1:c.767A>T NP_001371603.1:p.Asp256Val