Canonical Allele Identifier: CA487625293
Gene: SERPINA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.95085773C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.94619436C>A , CM000676.2:g.94619436C>A GRCh38
NC_000014.8:g.95085773C>A , CM000676.1:g.95085773C>A GRCh37
NC_000014.7:g.94155526C>A NCBI36
NG_012879.1:g.12060C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000393078.5:c.885C>A MANE Select ENSP00000376793.3:p.Thr295=
ENST00000393078.4:c.885C>A ENSP00000376793.3:p.Thr295=
ENST00000393080.8:c.885C>A ENSP00000376795.4:p.Thr295=
ENST00000467132.5:c.885C>A ENSP00000450540.1:p.Thr295=
ENST00000482740.2:c.231C>A ENSP00000451119.1:p.Thr77=
ENST00000553947.1:c.1848C>A
ENST00000555820.1:c.885C>A ENSP00000452246.3:p.Thr295=
ENST00000556388.1:n.58-2905C>A
ENST00000556968.2:c.644-2905C>A ENSP00000452476.1:n.644-2905C>A
ENST00000621603.1:c.104C>A
NM_001085.4:c.885C>A NP_001076.2:p.Thr295=
NM_001085.5:c.885C>A MANE Select NP_001076.2:p.Thr295=
NM_001384672.1:c.885C>A NP_001371601.1:p.Thr295=
NM_001384673.1:c.885C>A NP_001371602.1:p.Thr295=
NM_001384674.1:c.885C>A NP_001371603.1:p.Thr295=