Canonical Allele Identifier: CA127753

Gene: SERPINA3

Linked Data

• ClinVar Variation Id: 18047
• ClinVar RCV Id: RCV000019663 ; RCV000490276
• dbSNP Id: rs116929575
• ExAC: 14:95090119 A / G
• gnomAD v2: 14-95090119-A-G
• gnomAD v3: 14-94623782-A-G
• gnomAD v4: 14-94623782-A-G
• MyVariant Identifiers: chr14:g.95090119A>G (hg19) ; chr14:g.94623782A>G (hg38)
• PubMed: PMID:1618300 ; PMID:9040504 ; PMID:11289720

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.94623782A>G , CM000676.2:g.94623782A>G	GRCh38
NC_000014.8:g.95090119A>G , CM000676.1:g.95090119A>G	GRCh37
NC_000014.7:g.94159872A>G	NCBI36
NG_012879.1:g.16406A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393078.5:c.1240A>G MANE Select	ENSP00000376793.3:p.Met414Val
ENST00000393078.4:c.1240A>G	ENSP00000376793.3:p.Met414Val
ENST00000393080.8:c.1240A>G	ENSP00000376795.4:p.Met414Val
ENST00000467132.5:c.1240A>G	ENSP00000450540.1:p.Met414Val
ENST00000482740.2:c.586A>G	ENSP00000451119.1:p.Met196Val
ENST00000553947.1:c.2203A>G
ENST00000556968.2:c.*315A>G	ENSP00000452476.1:n.*315A>G
NM_001085.4:c.1240A>G	NP_001076.2:p.Met414Val
NM_001085.5:c.1240A>G MANE Select	NP_001076.2:p.Met414Val
NM_001384672.1:c.1240A>G	NP_001371601.1:p.Met414Val
NM_001384673.1:c.1240A>G	NP_001371602.1:p.Met414Val
NM_001384674.1:c.1240A>G	NP_001371603.1:p.Met414Val