Canonical Allele Identifier: CA5909551

Gene: SAA1

Linked Data

• dbSNP Id: rs753055758
• ExAC: 11:18291376 C / A
• gnomAD v2: 11-18291376-C-A
• gnomAD v4: 11-18269829-C-A
• MyVariant Identifiers: chr11:g.18291376C>A (hg19) ; chr11:g.18269829C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18269829C>A , CM000673.2:g.18269829C>A	GRCh38
NC_000011.9:g.18291376C>A , CM000673.1:g.18291376C>A	GRCh37
NC_000011.8:g.18247952C>A	NCBI36
NG_021330.1:g.8569C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689650.1:c.*492C>A	ENSP00000509190.1:n.*492C>A
ENST00000356524.9:c.343C>A MANE Select	ENSP00000348918.4:p.Pro115Thr
ENST00000649195.1:c.*140C>A	ENSP00000497498.1:n.*140C>A
ENST00000356524.8:c.343C>A	ENSP00000348918.4:p.Pro115Thr
ENST00000405158.2:c.343C>A	ENSP00000384906.2:p.Pro115Thr
ENST00000532858.5:c.343C>A	ENSP00000436866.1:p.Pro115Thr
NM_000331.4:c.343C>A	NP_000322.2:p.Pro115Thr
NM_001178006.1:c.343C>A	NP_001171477.1:p.Pro115Thr
NM_199161.3:c.343C>A	NP_954630.1:p.Pro115Thr
NM_000331.5:c.343C>A	NP_000322.2:p.Pro115Thr
NM_001178006.2:c.343C>A	NP_001171477.1:p.Pro115Thr
NM_199161.4:c.343C>A	NP_954630.1:p.Pro115Thr
NM_199161.5:c.343C>A MANE Select	NP_954630.2:p.Pro115Thr
NM_000331.6:c.343C>A	NP_000322.3:p.Pro115Thr
NM_001178006.3:c.343C>A	NP_001171477.2:p.Pro115Thr