Canonical Allele Identifier: CA390855412

Gene: SERPINA3

Linked Data

• dbSNP Id: rs1457598255
• gnomAD v4: 14-94619213-T-G
• MyVariant Identifiers: chr14:g.95085550T>G (hg19) ; chr14:g.94619213T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.94619213T>G , CM000676.2:g.94619213T>G	GRCh38
NC_000014.8:g.95085550T>G , CM000676.1:g.95085550T>G	GRCh37
NC_000014.7:g.94155303T>G	NCBI36
NG_012879.1:g.11837T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000393078.5:c.662T>G MANE Select	ENSP00000376793.3:p.Phe221Cys
ENST00000393078.4:c.662T>G	ENSP00000376793.3:p.Phe221Cys
ENST00000393080.8:c.662T>G	ENSP00000376795.4:p.Phe221Cys
ENST00000467132.5:c.662T>G	ENSP00000450540.1:p.Phe221Cys
ENST00000482740.2:c.8T>G	ENSP00000451119.1:p.Phe3Cys
ENST00000553947.1:c.1625T>G
ENST00000555820.1:c.662T>G	ENSP00000452246.3:p.Phe221Cys
ENST00000556388.1:n.58-3128T>G
ENST00000556968.2:c.644-3128T>G	ENSP00000452476.1:n.644-3128T>G
NM_001085.4:c.662T>G	NP_001076.2:p.Phe221Cys
NM_001085.5:c.662T>G MANE Select	NP_001076.2:p.Phe221Cys
NM_001384672.1:c.662T>G	NP_001371601.1:p.Phe221Cys
NM_001384673.1:c.662T>G	NP_001371602.1:p.Phe221Cys
NM_001384674.1:c.662T>G	NP_001371603.1:p.Phe221Cys