Canonical Allele Identifier: CA2626330520

Gene: SERPINA3

Linked Data

• gnomAD v4: 14-94619710-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.94619710G>T , CM000676.2:g.94619710G>T	GRCh38
NC_000014.8:g.95086047G>T , CM000676.1:g.95086047G>T	GRCh37
NC_000014.7:g.94155800G>T	NCBI36
NG_012879.1:g.12334G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393078.5:c.917+242G>T MANE Select	ENSP00000376793.3:n.917+242G>T
ENST00000393078.4:c.917+242G>T	ENSP00000376793.3:n.917+242G>T
ENST00000393080.8:c.917+242G>T	ENSP00000376795.4:n.917+242G>T
ENST00000467132.5:c.917+242G>T	ENSP00000450540.1:n.917+242G>T
ENST00000482740.2:c.263+242G>T	ENSP00000451119.1:n.263+242G>T
ENST00000553947.1:c.1880+242G>T
ENST00000556388.1:n.58-2631G>T
ENST00000556968.2:c.644-2631G>T	ENSP00000452476.1:n.644-2631G>T
ENST00000621603.1:c.378G>T
NM_001085.4:c.917+242G>T	NP_001076.2:n.917+242G>T
NM_001085.5:c.917+242G>T MANE Select	NP_001076.2:n.917+242G>T
NM_001384672.1:c.917+242G>T	NP_001371601.1:n.917+242G>T
NM_001384673.1:c.917+242G>T	NP_001371602.1:n.917+242G>T
NM_001384674.1:c.917+242G>T	NP_001371603.1:n.917+242G>T