Canonical Allele Identifier: CA218566807

Gene: SAA1

Linked Data

• dbSNP Id: rs552063508
• gnomAD v3: 11-18269912-T-A
• gnomAD v4: 11-18269912-T-A
• MyVariant Identifiers: chr11:g.18291459T>A (hg19) ; chr11:g.18269912T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18269912T>A , CM000673.2:g.18269912T>A	GRCh38
NC_000011.9:g.18291459T>A , CM000673.1:g.18291459T>A	GRCh37
NC_000011.8:g.18248035T>A	NCBI36
NG_021330.1:g.8652T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689650.1:c.*575T>A	ENSP00000509190.1:n.*575T>A
ENST00000356524.9:c.*57T>A MANE Select	ENSP00000348918.4:n.*57T>A
ENST00000649195.1:c.*223T>A	ENSP00000497498.1:n.*223T>A
ENST00000356524.8:c.*57T>A	ENSP00000348918.4:n.*57T>A
ENST00000405158.2:c.*57T>A	ENSP00000384906.2:n.*57T>A
ENST00000532858.5:c.*57T>A	ENSP00000436866.1:n.*57T>A
NM_000331.4:c.*57T>A	NP_000322.2:n.*57T>A
NM_001178006.1:c.*57T>A	NP_001171477.1:n.*57T>A
NM_199161.3:c.*57T>A	NP_954630.1:n.*57T>A
NM_000331.5:c.*57T>A	NP_000322.2:n.*57T>A
NM_001178006.2:c.*57T>A	NP_001171477.1:n.*57T>A
NM_199161.4:c.*57T>A	NP_954630.1:n.*57T>A
NM_199161.5:c.*57T>A MANE Select	NP_954630.2:n.*57T>A
NM_000331.6:c.*57T>A	NP_000322.3:n.*57T>A
NM_001178006.3:c.*57T>A	NP_001171477.2:n.*57T>A