Canonical Allele Identifier: CA127759
Gene: SERPINA3 HGNC NCBI
COSMIC:
COSM3754200 (not active)
COSM3754201 (not active)
MyVariant.info:
GRCh38 chr14:g.94614466G>A
GRCh37 chr14:g.95080803G>A
Revel Score:
ENST00000553947 0.234
ENST00000393078 (MANE Select) 0.234
ENST00000393080 0.234
ENST00000555820 0.234
ENST00000467132 0.234
ENST00000380354 0.234
gnomAD v2:
14:95080803 G / A
gnomAD v3:
14:94614466 G / A
gnomAD v4:
chr14-94614466-G-A
Joint Max Group AF 0.59153986 (EAS)
Genomes Max Group AF 0.58835062 (EAS)
Exomes Max Group AF 0.59006187 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.94614466G>A , CM000676.2:g.94614466G>A GRCh38
NC_000014.8:g.95080803G>A , CM000676.1:g.95080803G>A GRCh37
NC_000014.7:g.94150556G>A NCBI36
NG_012879.1:g.7090G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000393078.5:c.25G>A MANE Select ENSP00000376793.3:p.Ala9Thr
ENST00000393078.4:c.25G>A ENSP00000376793.3:p.Ala9Thr
ENST00000393080.8:c.25G>A ENSP00000376795.4:p.Ala9Thr
ENST00000467132.5:c.25G>A ENSP00000450540.1:p.Ala9Thr
ENST00000553947.1:c.988G>A
ENST00000555820.1:c.25G>A ENSP00000452246.3:p.Ala9Thr
ENST00000556388.1:n.57+2019G>A
ENST00000556968.2:c.25G>A ENSP00000452476.1:p.Ala9Thr
NM_001085.4:c.25G>A NP_001076.2:p.Ala9Thr
NM_001085.5:c.25G>A MANE Select NP_001076.2:p.Ala9Thr
NM_001384672.1:c.25G>A NP_001371601.1:p.Ala9Thr
NM_001384673.1:c.25G>A NP_001371602.1:p.Ala9Thr
NM_001384674.1:c.25G>A NP_001371603.1:p.Ala9Thr
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