Canonical Allele Identifier: CA7329856

Gene: SERPINA3

Linked Data

• dbSNP Id: rs774434380
• ExAC: 14:95085542 G / C
• gnomAD v2: 14-95085542-G-C
• gnomAD v4: 14-94619205-G-C
• MyVariant Identifiers: chr14:g.95085542G>C (hg19) ; chr14:g.94619205G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.94619205G>C , CM000676.2:g.94619205G>C	GRCh38
NC_000014.8:g.95085542G>C , CM000676.1:g.95085542G>C	GRCh37
NC_000014.7:g.94155295G>C	NCBI36
NG_012879.1:g.11829G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000393078.5:c.654G>C MANE Select	ENSP00000376793.3:p.Glu218Asp
ENST00000393078.4:c.654G>C	ENSP00000376793.3:p.Glu218Asp
ENST00000393080.8:c.654G>C	ENSP00000376795.4:p.Glu218Asp
ENST00000467132.5:c.654G>C	ENSP00000450540.1:p.Glu218Asp
ENST00000482740.2:c.-1G>C	ENSP00000451119.1:n.-1G>C
ENST00000553947.1:c.1617G>C
ENST00000555820.1:c.654G>C	ENSP00000452246.3:p.Glu218Asp
ENST00000556388.1:n.58-3136G>C
ENST00000556968.2:c.644-3136G>C	ENSP00000452476.1:n.644-3136G>C
NM_001085.4:c.654G>C	NP_001076.2:p.Glu218Asp
NM_001085.5:c.654G>C MANE Select	NP_001076.2:p.Glu218Asp
NM_001384672.1:c.654G>C	NP_001371601.1:p.Glu218Asp
NM_001384673.1:c.654G>C	NP_001371602.1:p.Glu218Asp
NM_001384674.1:c.654G>C	NP_001371603.1:p.Glu218Asp