Canonical Allele Identifier: CA390855559

Gene: SERPINA3

Linked Data

• gnomAD v4: 14-94619242-T-C
• MyVariant Identifiers: chr14:g.95085579T>C (hg19) ; chr14:g.94619242T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.94619242T>C , CM000676.2:g.94619242T>C	GRCh38
NC_000014.8:g.95085579T>C , CM000676.1:g.95085579T>C	GRCh37
NC_000014.7:g.94155332T>C	NCBI36
NG_012879.1:g.11866T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393078.5:c.691T>C MANE Select	ENSP00000376793.3:p.Phe231Leu
ENST00000393078.4:c.691T>C	ENSP00000376793.3:p.Phe231Leu
ENST00000393080.8:c.691T>C	ENSP00000376795.4:p.Phe231Leu
ENST00000467132.5:c.691T>C	ENSP00000450540.1:p.Phe231Leu
ENST00000482740.2:c.37T>C	ENSP00000451119.1:p.Phe13Leu
ENST00000553947.1:c.1654T>C
ENST00000555820.1:c.691T>C	ENSP00000452246.3:p.Phe231Leu
ENST00000556388.1:n.58-3099T>C
ENST00000556968.2:c.644-3099T>C	ENSP00000452476.1:n.644-3099T>C
NM_001085.4:c.691T>C	NP_001076.2:p.Phe231Leu
NM_001085.5:c.691T>C MANE Select	NP_001076.2:p.Phe231Leu
NM_001384672.1:c.691T>C	NP_001371601.1:p.Phe231Leu
NM_001384673.1:c.691T>C	NP_001371602.1:p.Phe231Leu
NM_001384674.1:c.691T>C	NP_001371603.1:p.Phe231Leu