Canonical Allele Identifier: CA616115374

Gene: SERPINA3

Linked Data

• dbSNP Id: rs1159526546
• gnomAD v2: 14-95085857-A-G
• gnomAD v4: 14-94619520-A-G
• MyVariant Identifiers: chr14:g.95085857A>G (hg19) ; chr14:g.94619520A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.94619520A>G , CM000676.2:g.94619520A>G	GRCh38
NC_000014.8:g.95085857A>G , CM000676.1:g.95085857A>G	GRCh37
NC_000014.7:g.94155610A>G	NCBI36
NG_012879.1:g.12144A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393078.5:c.917+52A>G MANE Select	ENSP00000376793.3:n.917+52A>G
ENST00000393078.4:c.917+52A>G	ENSP00000376793.3:n.917+52A>G
ENST00000393080.8:c.917+52A>G	ENSP00000376795.4:n.917+52A>G
ENST00000467132.5:c.917+52A>G	ENSP00000450540.1:n.917+52A>G
ENST00000482740.2:c.263+52A>G	ENSP00000451119.1:n.263+52A>G
ENST00000553947.1:c.1880+52A>G
ENST00000556388.1:n.58-2821A>G
ENST00000556968.2:c.644-2821A>G	ENSP00000452476.1:n.644-2821A>G
ENST00000621603.1:c.188A>G
NM_001085.4:c.917+52A>G	NP_001076.2:n.917+52A>G
NM_001085.5:c.917+52A>G MANE Select	NP_001076.2:n.917+52A>G
NM_001384672.1:c.917+52A>G	NP_001371601.1:n.917+52A>G
NM_001384673.1:c.917+52A>G	NP_001371602.1:n.917+52A>G
NM_001384674.1:c.917+52A>G	NP_001371603.1:n.917+52A>G