Canonical Allele Identifier: CA7328302
Gene: SERPINA9 HGNC NCBI
COSMIC:
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.94469770G>A , CM000676.2:g.94469770G>A GRCh38
NC_000014.8:g.94936107G>A , CM000676.1:g.94936107G>A GRCh37
NC_000014.7:g.94005860G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000298845.12:c.71C>T ENSP00000298845.8:p.Ala24Val
ENST00000337425.10:c.125C>T ENSP00000337133.5:p.Ala42Val
ENST00000546329.2:c.-67-103C>T ENSP00000445476.2:n.-67-103C>T
ENST00000674164.1:c.125C>T ENSP00000501328.1:p.Ala42Val
ENST00000674397.2:c.71C>T MANE Select ENSP00000501517.1:p.Ala24Val
ENST00000298845.11:c.125C>T ENSP00000298845.7:p.Ala42Val
ENST00000337425.9:c.125C>T ENSP00000337133.5:p.Ala42Val
ENST00000380365.7:c.71C>T ENSP00000369723.3:p.Ala24Val
ENST00000424550.6:c.-19-304C>T ENSP00000409012.2:n.-19-304C>T
ENST00000448305.6:c.-67-103C>T ENSP00000414092.2:n.-67-103C>T
ENST00000538527.5:c.207C>T ENSP00000441511.1:p.Gly69=
ENST00000539349.1:n.563C>T
ENST00000546329.1:c.120-103C>T ENSP00000445476.1:n.120-103C>T
NM_001042518.1:c.125C>T NP_001035983.1:p.Ala42Val
NM_001284275.1:c.120-103C>T NP_001271204.1:n.120-103C>T
NM_001284276.1:c.-19-304C>T NP_001271205.1:n.-19-304C>T
NM_175739.3:c.125C>T NP_783866.2:p.Ala42Val
XM_011536713.1:c.71C>T XP_011535015.1:p.Ala24Val
XM_011536714.1:c.71C>T XP_011535016.1:p.Ala24Val
XM_011536715.1:c.71C>T XP_011535017.1:p.Ala24Val
XM_011536716.1:c.-67-103C>T XP_011535018.1:n.-67-103C>T
XM_011536717.1:c.-67-103C>T XP_011535019.1:n.-67-103C>T
XM_011536714.2:c.71C>T XP_011535016.1:p.Ala24Val
XM_011536715.2:c.71C>T XP_011535017.1:p.Ala24Val
XM_011536716.2:c.-67-103C>T XP_011535018.1:n.-67-103C>T
NM_001042518.2:c.71C>T NP_001035983.2:p.Ala24Val
NM_001284275.2:c.-67-103C>T NP_001271204.2:n.-67-103C>T
NM_001284276.2:c.-19-304C>T NP_001271205.1:n.-19-304C>T
NM_175739.4:c.71C>T MANE Select NP_783866.3:p.Ala24Val