Canonical Allele Identifier: CA7328030

Gene: SERPINA9

Linked Data

• dbSNP Id: rs11628722
• ExAC: 14:94931105 A / G
• gnomAD v2: 14-94931105-A-G
• gnomAD v3: 14-94464768-A-G
• gnomAD v4: 14-94464768-A-G
• MyVariant Identifiers: chr14:g.94931105A>G (hg19) ; chr14:g.94464768A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000298845.12:c.689T>C	ENSP00000298845.8:p.Val230Ala
ENST00000337425.10:c.1043T>C	ENSP00000337133.5:p.Val348Ala
ENST00000546329.2:c.749T>C	ENSP00000445476.2:p.Val250Ala
ENST00000674164.1:c.743T>C	ENSP00000501328.1:p.Val248Ala
ENST00000674397.2:c.989T>C MANE Select	ENSP00000501517.1:p.Val330Ala
ENST00000298845.11:c.743T>C	ENSP00000298845.7:p.Val248Ala
ENST00000337425.9:c.1043T>C	ENSP00000337133.5:p.Val348Ala
ENST00000380365.7:c.989T>C	ENSP00000369723.3:p.Val330Ala
ENST00000424550.6:c.596T>C	ENSP00000409012.2:p.Val199Ala
ENST00000448305.6:c.749T>C	ENSP00000414092.2:p.Val250Ala
ENST00000538527.5:c.*519T>C	ENSP00000441511.1:n.*519T>C
ENST00000546329.1:c.935T>C	ENSP00000445476.1:p.Val312Ala
NM_001042518.1:c.743T>C	NP_001035983.1:p.Val248Ala
NM_001284275.1:c.935T>C	NP_001271204.1:p.Val312Ala
NM_001284276.1:c.596T>C	NP_001271205.1:p.Val199Ala
NM_175739.3:c.1043T>C	NP_783866.2:p.Val348Ala
XM_011536713.1:c.989T>C	XP_011535015.1:p.Val330Ala
XM_011536714.1:c.989T>C	XP_011535016.1:p.Val330Ala
XM_011536715.1:c.989T>C	XP_011535017.1:p.Val330Ala
XM_011536716.1:c.749T>C	XP_011535018.1:p.Val250Ala
XM_011536717.1:c.749T>C	XP_011535019.1:p.Val250Ala
XM_011536714.2:c.989T>C	XP_011535016.1:p.Val330Ala
XM_011536715.2:c.989T>C	XP_011535017.1:p.Val330Ala
XM_011536716.2:c.749T>C	XP_011535018.1:p.Val250Ala
NM_001042518.2:c.689T>C	NP_001035983.2:p.Val230Ala
NM_001284275.2:c.749T>C	NP_001271204.2:p.Val250Ala
NM_001284276.2:c.596T>C	NP_001271205.1:p.Val199Ala
NM_175739.4:c.989T>C MANE Select	NP_783866.3:p.Val330Ala