Canonical Allele Identifier: CA487625223
Gene: SERPINA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.95085644T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.94619307T>C , CM000676.2:g.94619307T>C GRCh38
NC_000014.8:g.95085644T>C , CM000676.1:g.95085644T>C GRCh37
NC_000014.7:g.94155397T>C NCBI36
NG_012879.1:g.11931T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000393078.5:c.756T>C MANE Select ENSP00000376793.3:p.Pro252=
ENST00000393078.4:c.756T>C ENSP00000376793.3:p.Pro252=
ENST00000393080.8:c.756T>C ENSP00000376795.4:p.Pro252=
ENST00000467132.5:c.756T>C ENSP00000450540.1:p.Pro252=
ENST00000482740.2:c.102T>C ENSP00000451119.1:p.Pro34=
ENST00000553947.1:c.1719T>C
ENST00000555820.1:c.756T>C ENSP00000452246.3:p.Pro252=
ENST00000556388.1:n.58-3034T>C
ENST00000556968.2:c.644-3034T>C ENSP00000452476.1:n.644-3034T>C
NM_001085.4:c.756T>C NP_001076.2:p.Pro252=
NM_001085.5:c.756T>C MANE Select NP_001076.2:p.Pro252=
NM_001384672.1:c.756T>C NP_001371601.1:p.Pro252=
NM_001384673.1:c.756T>C NP_001371602.1:p.Pro252=
NM_001384674.1:c.756T>C NP_001371603.1:p.Pro252=