Canonical Allele Identifier: CA127755
Gene: SERPINA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 18049
ClinVar RCV Id: RCV000019665
dbSNP Id: rs1800463

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.94614674T>C , CM000676.2:g.94614674T>C GRCh38
NC_000014.8:g.95081011T>C , CM000676.1:g.95081011T>C GRCh37
NC_000014.7:g.94150764T>C NCBI36
NG_012879.1:g.7298T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000393078.5:c.233T>C MANE Select ENSP00000376793.3:p.Leu78Pro
ENST00000393078.4:c.233T>C ENSP00000376793.3:p.Leu78Pro
ENST00000393080.8:c.233T>C ENSP00000376795.4:p.Leu78Pro
ENST00000467132.5:c.233T>C ENSP00000450540.1:p.Leu78Pro
ENST00000553947.1:c.1196T>C
ENST00000555820.1:c.233T>C ENSP00000452246.3:p.Leu78Pro
ENST00000556388.1:n.57+2227T>C
ENST00000556968.2:c.233T>C ENSP00000452476.1:p.Leu78Pro
NM_001085.4:c.233T>C NP_001076.2:p.Leu78Pro
NM_001085.5:c.233T>C MANE Select NP_001076.2:p.Leu78Pro
NM_001384672.1:c.233T>C NP_001371601.1:p.Leu78Pro
NM_001384673.1:c.233T>C NP_001371602.1:p.Leu78Pro
NM_001384674.1:c.233T>C NP_001371603.1:p.Leu78Pro