Canonical Allele Identifier: CA2155995080

Gene: SERPINA9

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.94464768A= , CM000676.2:g.94464768A=	GRCh38
NC_000014.8:g.94931105A= , CM000676.1:g.94931105A=	GRCh37
NC_000014.7:g.94000858A=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_175739.4:c.989T= MANE Select	NP_783866.3:p.Val330=
ENST00000674397.2:c.989T= MANE Select	ENSP00000501517.1:p.Val330=
NM_001042518.1:c.743T=	NP_001035983.1:p.Val248=
NM_001042518.2:c.689T=	NP_001035983.2:p.Val230=
NM_001284275.1:c.935T=	NP_001271204.1:p.Val312=
NM_001284275.2:c.749T=	NP_001271204.2:p.Val250=
NM_001284276.1:c.596T=	NP_001271205.1:p.Val199=
NM_001284276.2:c.596T=	NP_001271205.1:p.Val199=
NM_175739.3:c.1043T=	NP_783866.2:p.Val348=
ENST00000298845.11:c.743T=	ENSP00000298845.7:p.Val248=
ENST00000298845.12:c.689T=	ENSP00000298845.8:p.Val230=
ENST00000337425.10:c.1043T=	ENSP00000337133.5:p.Val348=
ENST00000337425.9:c.1043T=	ENSP00000337133.5:p.Val348=
ENST00000380365.7:c.989T=	ENSP00000369723.3:p.Val330=
ENST00000424550.6:c.596T=	ENSP00000409012.2:p.Val199=
ENST00000448305.6:c.749T=	ENSP00000414092.2:p.Val250=
ENST00000538527.5:c.*519T=	ENSP00000441511.1:n.*519T=
ENST00000546329.1:c.935T=	ENSP00000445476.1:p.Val312=
ENST00000546329.2:c.749T=	ENSP00000445476.2:p.Val250=
ENST00000674164.1:c.743T=	ENSP00000501328.1:p.Val248=
XM_011536713.1:c.989T=	XP_011535015.1:p.Val330=
XM_011536714.1:c.989T=	XP_011535016.1:p.Val330=
XM_011536714.2:c.989T=	XP_011535016.1:p.Val330=
XM_011536715.1:c.989T=	XP_011535017.1:p.Val330=
XM_011536715.2:c.989T=	XP_011535017.1:p.Val330=
XM_011536716.1:c.749T=	XP_011535018.1:p.Val250=
XM_011536716.2:c.749T=	XP_011535018.1:p.Val250=
XM_011536717.1:c.749T=	XP_011535019.1:p.Val250=