Canonical Allele Identifier: CA379506309

Gene: SAA1

Linked Data

• ClinVar Variation Id: 2309057
• ClinVar RCV Id: RCV004160016
• MyVariant Identifiers: chr11:g.18291342G>C (hg19) ; chr11:g.18269795G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18269795G>C , CM000673.2:g.18269795G>C	GRCh38
NC_000011.9:g.18291342G>C , CM000673.1:g.18291342G>C	GRCh37
NC_000011.8:g.18247918G>C	NCBI36
NG_021330.1:g.8535G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689650.1:c.*458G>C	ENSP00000509190.1:n.*458G>C
ENST00000356524.9:c.309G>C MANE Select	ENSP00000348918.4:p.Trp103Cys
ENST00000649195.1:c.*106G>C	ENSP00000497498.1:n.*106G>C
ENST00000356524.8:c.309G>C	ENSP00000348918.4:p.Trp103Cys
ENST00000405158.2:c.309G>C	ENSP00000384906.2:p.Trp103Cys
ENST00000532858.5:c.309G>C	ENSP00000436866.1:p.Trp103Cys
NM_000331.4:c.309G>C	NP_000322.2:p.Trp103Cys
NM_001178006.1:c.309G>C	NP_001171477.1:p.Trp103Cys
NM_199161.3:c.309G>C	NP_954630.1:p.Trp103Cys
NM_000331.5:c.309G>C	NP_000322.2:p.Trp103Cys
NM_001178006.2:c.309G>C	NP_001171477.1:p.Trp103Cys
NM_199161.4:c.309G>C	NP_954630.1:p.Trp103Cys
NM_199161.5:c.309G>C MANE Select	NP_954630.2:p.Trp103Cys
NM_000331.6:c.309G>C	NP_000322.3:p.Trp103Cys
NM_001178006.3:c.309G>C	NP_001171477.2:p.Trp103Cys