Canonical Allele Identifier: CA7329682

Gene: SERPINA3

Linked Data

• dbSNP Id: rs751064753
• ExAC: 14:95080926 G / A
• gnomAD v3: 14-94614589-G-A
• gnomAD v4: 14-94614589-G-A
• MyVariant Identifiers: chr14:g.95080926G>A (hg19) ; chr14:g.94614589G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.94614589G>A , CM000676.2:g.94614589G>A	GRCh38
NC_000014.8:g.95080926G>A , CM000676.1:g.95080926G>A	GRCh37
NC_000014.7:g.94150679G>A	NCBI36
NG_012879.1:g.7213G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393078.5:c.148G>A MANE Select	ENSP00000376793.3:p.Ala50Thr
ENST00000393078.4:c.148G>A	ENSP00000376793.3:p.Ala50Thr
ENST00000393080.8:c.148G>A	ENSP00000376795.4:p.Ala50Thr
ENST00000467132.5:c.148G>A	ENSP00000450540.1:p.Ala50Thr
ENST00000553947.1:c.1111G>A
ENST00000555820.1:c.148G>A	ENSP00000452246.3:p.Ala50Thr
ENST00000556388.1:n.57+2142G>A
ENST00000556968.2:c.148G>A	ENSP00000452476.1:p.Ala50Thr
NM_001085.4:c.148G>A	NP_001076.2:p.Ala50Thr
NM_001085.5:c.148G>A MANE Select	NP_001076.2:p.Ala50Thr
NM_001384672.1:c.148G>A	NP_001371601.1:p.Ala50Thr
NM_001384673.1:c.148G>A	NP_001371602.1:p.Ala50Thr
NM_001384674.1:c.148G>A	NP_001371603.1:p.Ala50Thr