Canonical Allele Identifier: CA2156076321
Community Standard Title: NM_001085.5(SERPINA3):c.1240A= (p.Met414=)
Gene: SERPINA3 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_001085.5:c.1240A= MANE Select NP_001076.2:p.Met414=
ENST00000393078.5:c.1240A= MANE Select ENSP00000376793.3:p.Met414=
NM_001085.4:c.1240A= NP_001076.2:p.Met414=
NM_001384672.1:c.1240A= NP_001371601.1:p.Met414=
NM_001384673.1:c.1240A= NP_001371602.1:p.Met414=
NM_001384674.1:c.1240A= NP_001371603.1:p.Met414=
ENST00000393078.4:c.1240A= ENSP00000376793.3:p.Met414=
ENST00000393080.8:c.1240A= ENSP00000376795.4:p.Met414=
ENST00000467132.5:c.1240A= ENSP00000450540.1:p.Met414=
ENST00000482740.2:c.586A= ENSP00000451119.1:p.Met196=
ENST00000553947.1:c.2203A=
ENST00000556968.2:c.*315A= ENSP00000452476.1:n.*315A=