Canonical Allele Identifier: CA265879819

Gene: SERPINA3

Linked Data

• dbSNP Id: rs1800463
• MyVariant Identifiers: chr14:g.95081011T>A (hg19) ; chr14:g.94614674T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000393078.5:c.233T>A MANE Select	ENSP00000376793.3:p.Leu78Gln
ENST00000393078.4:c.233T>A	ENSP00000376793.3:p.Leu78Gln
ENST00000393080.8:c.233T>A	ENSP00000376795.4:p.Leu78Gln
ENST00000467132.5:c.233T>A	ENSP00000450540.1:p.Leu78Gln
ENST00000553947.1:c.1196T>A
ENST00000555820.1:c.233T>A	ENSP00000452246.3:p.Leu78Gln
ENST00000556388.1:n.57+2227T>A
ENST00000556968.2:c.233T>A	ENSP00000452476.1:p.Leu78Gln
NM_001085.4:c.233T>A	NP_001076.2:p.Leu78Gln
NM_001085.5:c.233T>A MANE Select	NP_001076.2:p.Leu78Gln
NM_001384672.1:c.233T>A	NP_001371601.1:p.Leu78Gln
NM_001384673.1:c.233T>A	NP_001371602.1:p.Leu78Gln
NM_001384674.1:c.233T>A	NP_001371603.1:p.Leu78Gln