Canonical Allele Identifier: CA5909557

Gene: SAA1

Linked Data

• dbSNP Id: rs547627072
• ExAC: 11:18291425 A / G
• gnomAD v2: 11-18291425-A-G
• gnomAD v3: 11-18269878-A-G
• gnomAD v4: 11-18269878-A-G
• MyVariant Identifiers: chr11:g.18291425A>G (hg19) ; chr11:g.18269878A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18269878A>G , CM000673.2:g.18269878A>G	GRCh38
NC_000011.9:g.18291425A>G , CM000673.1:g.18291425A>G	GRCh37
NC_000011.8:g.18248001A>G	NCBI36
NG_021330.1:g.8618A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689650.1:c.*541A>G	ENSP00000509190.1:n.*541A>G
ENST00000356524.9:c.*23A>G MANE Select	ENSP00000348918.4:n.*23A>G
ENST00000649195.1:c.*189A>G	ENSP00000497498.1:n.*189A>G
ENST00000356524.8:c.*23A>G	ENSP00000348918.4:n.*23A>G
ENST00000405158.2:c.*23A>G	ENSP00000384906.2:n.*23A>G
ENST00000532858.5:c.*23A>G	ENSP00000436866.1:n.*23A>G
NM_000331.4:c.*23A>G	NP_000322.2:n.*23A>G
NM_001178006.1:c.*23A>G	NP_001171477.1:n.*23A>G
NM_199161.3:c.*23A>G	NP_954630.1:n.*23A>G
NM_000331.5:c.*23A>G	NP_000322.2:n.*23A>G
NM_001178006.2:c.*23A>G	NP_001171477.1:n.*23A>G
NM_199161.4:c.*23A>G	NP_954630.1:n.*23A>G
NM_199161.5:c.*23A>G MANE Select	NP_954630.2:n.*23A>G
NM_000331.6:c.*23A>G	NP_000322.3:n.*23A>G
NM_001178006.3:c.*23A>G	NP_001171477.2:n.*23A>G