Canonical Allele Identifier: CA390855661
Gene: SERPINA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.94619263T>G , CM000676.2:g.94619263T>G GRCh38
NC_000014.8:g.95085600T>G , CM000676.1:g.95085600T>G GRCh37
NC_000014.7:g.94155353T>G NCBI36
NG_012879.1:g.11887T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000393078.5:c.712T>G MANE Select ENSP00000376793.3:p.Trp238Gly
ENST00000393078.4:c.712T>G ENSP00000376793.3:p.Trp238Gly
ENST00000393080.8:c.712T>G ENSP00000376795.4:p.Trp238Gly
ENST00000467132.5:c.712T>G ENSP00000450540.1:p.Trp238Gly
ENST00000482740.2:c.58T>G ENSP00000451119.1:p.Trp20Gly
ENST00000553947.1:c.1675T>G
ENST00000555820.1:c.712T>G ENSP00000452246.3:p.Trp238Gly
ENST00000556388.1:n.58-3078T>G
ENST00000556968.2:c.644-3078T>G ENSP00000452476.1:n.644-3078T>G
NM_001085.4:c.712T>G NP_001076.2:p.Trp238Gly
NM_001085.5:c.712T>G MANE Select NP_001076.2:p.Trp238Gly
NM_001384672.1:c.712T>G NP_001371601.1:p.Trp238Gly
NM_001384673.1:c.712T>G NP_001371602.1:p.Trp238Gly
NM_001384674.1:c.712T>G NP_001371603.1:p.Trp238Gly