Canonical Allele Identifier: CA7329705

Gene: SERPINA3

Linked Data

• dbSNP Id: rs143117416
• ExAC: 14:95081015 C / T
• gnomAD v2: 14-95081015-C-T
• gnomAD v3: 14-94614678-C-T
• gnomAD v4: 14-94614678-C-T
• MyVariant Identifiers: chr14:g.95081015C>T (hg19) ; chr14:g.94614678C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.94614678C>T , CM000676.2:g.94614678C>T	GRCh38
NC_000014.8:g.95081015C>T , CM000676.1:g.95081015C>T	GRCh37
NC_000014.7:g.94150768C>T	NCBI36
NG_012879.1:g.7302C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393078.5:c.237C>T MANE Select	ENSP00000376793.3:p.Ser79=
ENST00000393078.4:c.237C>T	ENSP00000376793.3:p.Ser79=
ENST00000393080.8:c.237C>T	ENSP00000376795.4:p.Ser79=
ENST00000467132.5:c.237C>T	ENSP00000450540.1:p.Ser79=
ENST00000553947.1:c.1200C>T
ENST00000555820.1:c.237C>T	ENSP00000452246.3:p.Ser79=
ENST00000556388.1:n.57+2231C>T
ENST00000556968.2:c.237C>T	ENSP00000452476.1:p.Ser79=
NM_001085.4:c.237C>T	NP_001076.2:p.Ser79=
NM_001085.5:c.237C>T MANE Select	NP_001076.2:p.Ser79=
NM_001384672.1:c.237C>T	NP_001371601.1:p.Ser79=
NM_001384673.1:c.237C>T	NP_001371602.1:p.Ser79=
NM_001384674.1:c.237C>T	NP_001371603.1:p.Ser79=