Canonical Allele Identifier: CA487625283
Gene: SERPINA3 HGNC NCBI

Linked Data

dbSNP Id: rs1190820294

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.94619422C>T , CM000676.2:g.94619422C>T GRCh38
NC_000014.8:g.95085759C>T , CM000676.1:g.95085759C>T GRCh37
NC_000014.7:g.94155512C>T NCBI36
NG_012879.1:g.12046C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393078.5:c.871C>T MANE Select ENSP00000376793.3:p.Leu291=
ENST00000393078.4:c.871C>T ENSP00000376793.3:p.Leu291=
ENST00000393080.8:c.871C>T ENSP00000376795.4:p.Leu291=
ENST00000467132.5:c.871C>T ENSP00000450540.1:p.Leu291=
ENST00000482740.2:c.217C>T ENSP00000451119.1:p.Leu73=
ENST00000553947.1:c.1834C>T
ENST00000555820.1:c.871C>T ENSP00000452246.3:p.Leu291=
ENST00000556388.1:n.58-2919C>T
ENST00000556968.2:c.644-2919C>T ENSP00000452476.1:n.644-2919C>T
ENST00000621603.1:c.90C>T
NM_001085.4:c.871C>T NP_001076.2:p.Leu291=
NM_001085.5:c.871C>T MANE Select NP_001076.2:p.Leu291=
NM_001384672.1:c.871C>T NP_001371601.1:p.Leu291=
NM_001384673.1:c.871C>T NP_001371602.1:p.Leu291=
NM_001384674.1:c.871C>T NP_001371603.1:p.Leu291=