Canonical Allele Identifier: CA390855555

Gene: SERPINA3

Linked Data

• dbSNP Id: rs1352062272
• gnomAD v4: 14-94619241-G-T
• MyVariant Identifiers: chr14:g.95085578G>T (hg19) ; chr14:g.94619241G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.94619241G>T , CM000676.2:g.94619241G>T	GRCh38
NC_000014.8:g.95085578G>T , CM000676.1:g.95085578G>T	GRCh37
NC_000014.7:g.94155331G>T	NCBI36
NG_012879.1:g.11865G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393078.5:c.690G>T MANE Select	ENSP00000376793.3:p.Arg230Ser
ENST00000393078.4:c.690G>T	ENSP00000376793.3:p.Arg230Ser
ENST00000393080.8:c.690G>T	ENSP00000376795.4:p.Arg230Ser
ENST00000467132.5:c.690G>T	ENSP00000450540.1:p.Arg230Ser
ENST00000482740.2:c.36G>T	ENSP00000451119.1:p.Arg12Ser
ENST00000553947.1:c.1653G>T
ENST00000555820.1:c.690G>T	ENSP00000452246.3:p.Arg230Ser
ENST00000556388.1:n.58-3100G>T
ENST00000556968.2:c.644-3100G>T	ENSP00000452476.1:n.644-3100G>T
NM_001085.4:c.690G>T	NP_001076.2:p.Arg230Ser
NM_001085.5:c.690G>T MANE Select	NP_001076.2:p.Arg230Ser
NM_001384672.1:c.690G>T	NP_001371601.1:p.Arg230Ser
NM_001384673.1:c.690G>T	NP_001371602.1:p.Arg230Ser
NM_001384674.1:c.690G>T	NP_001371603.1:p.Arg230Ser