Canonical Allele Identifier: CA7329859

Gene: SERPINA3

Linked Data

• dbSNP Id: rs758343431
• ExAC: 14:95085549 T / TAC
• gnomAD v2: 14-95085549-T-TAC
• gnomAD v3: 14-94619212-T-TAC
• gnomAD v4: 14-94619212-T-TAC
• MyVariant Identifiers: chr14:g.95085549_95085550insAC (hg19) ; chr14:g.94619212_94619213insAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.94619212_94619213insAC , CM000676.2:g.94619212_94619213insAC	GRCh38
NC_000014.8:g.95085549_95085550insAC , CM000676.1:g.95085549_95085550insAC	GRCh37
NC_000014.7:g.94155302_94155303insAC	NCBI36
NG_012879.1:g.11836_11837insAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000393078.5:c.661_662insAC MANE Select	ENSP00000376793.3:p.Phe221TyrfsTer14
ENST00000393078.4:c.661_662insAC	ENSP00000376793.3:p.Phe221TyrfsTer14
ENST00000393080.8:c.661_662insAC	ENSP00000376795.4:p.Phe221TyrfsTer14
ENST00000467132.5:c.661_662insAC	ENSP00000450540.1:p.Phe221TyrfsTer14
ENST00000482740.2:c.7_8insAC	ENSP00000451119.1:p.Phe3TyrfsTer14
ENST00000553947.1:c.1624_1625insAC
ENST00000555820.1:c.661_662insAC	ENSP00000452246.3:p.Phe221TyrfsTer14
ENST00000556388.1:n.58-3129_58-3128insAC
ENST00000556968.2:c.644-3129_644-3128insAC	ENSP00000452476.1:n.644-3129_644-3128insAC
NM_001085.4:c.661_662insAC	NP_001076.2:p.Phe221TyrfsTer14
NM_001085.5:c.661_662insAC MANE Select	NP_001076.2:p.Phe221TyrfsTer14
NM_001384672.1:c.661_662insAC	NP_001371601.1:p.Phe221TyrfsTer14
NM_001384673.1:c.661_662insAC	NP_001371602.1:p.Phe221TyrfsTer14
NM_001384674.1:c.661_662insAC	NP_001371603.1:p.Phe221TyrfsTer14