Canonical Allele Identifier: CA390856404

Gene: SERPINA3

Linked Data

• gnomAD v4: 14-94619462-A-C
• MyVariant Identifiers: chr14:g.95085799A>C (hg19) ; chr14:g.94619462A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.94619462A>C , CM000676.2:g.94619462A>C	GRCh38
NC_000014.8:g.95085799A>C , CM000676.1:g.95085799A>C	GRCh37
NC_000014.7:g.94155552A>C	NCBI36
NG_012879.1:g.12086A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393078.5:c.911A>C MANE Select	ENSP00000376793.3:p.Glu304Ala
ENST00000393078.4:c.911A>C	ENSP00000376793.3:p.Glu304Ala
ENST00000393080.8:c.911A>C	ENSP00000376795.4:p.Glu304Ala
ENST00000467132.5:c.911A>C	ENSP00000450540.1:p.Glu304Ala
ENST00000482740.2:c.257A>C	ENSP00000451119.1:p.Glu86Ala
ENST00000553947.1:c.1874A>C
ENST00000555820.1:c.911A>C	ENSP00000452246.3:p.Glu304Ala
ENST00000556388.1:n.58-2879A>C
ENST00000556968.2:c.644-2879A>C	ENSP00000452476.1:n.644-2879A>C
ENST00000621603.1:c.130A>C
NM_001085.4:c.911A>C	NP_001076.2:p.Glu304Ala
NM_001085.5:c.911A>C MANE Select	NP_001076.2:p.Glu304Ala
NM_001384672.1:c.911A>C	NP_001371601.1:p.Glu304Ala
NM_001384673.1:c.911A>C	NP_001371602.1:p.Glu304Ala
NM_001384674.1:c.911A>C	NP_001371603.1:p.Glu304Ala