Canonical Allele Identifier: CA379505623

Gene: SAA1

Linked Data

• gnomAD v4: 11-18269730-A-G
• MyVariant Identifiers: chr11:g.18291277A>G (hg19) ; chr11:g.18269730A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18269730A>G , CM000673.2:g.18269730A>G	GRCh38
NC_000011.9:g.18291277A>G , CM000673.1:g.18291277A>G	GRCh37
NC_000011.8:g.18247853A>G	NCBI36
NG_021330.1:g.8470A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689650.1:c.*393A>G	ENSP00000509190.1:n.*393A>G
ENST00000356524.9:c.244A>G MANE Select	ENSP00000348918.4:p.Asn82Asp
ENST00000649195.1:c.*41A>G	ENSP00000497498.1:n.*41A>G
ENST00000356524.8:c.244A>G	ENSP00000348918.4:p.Asn82Asp
ENST00000405158.2:c.244A>G	ENSP00000384906.2:p.Asn82Asp
ENST00000532858.5:c.244A>G	ENSP00000436866.1:p.Asn82Asp
NM_000331.4:c.244A>G	NP_000322.2:p.Asn82Asp
NM_001178006.1:c.244A>G	NP_001171477.1:p.Asn82Asp
NM_199161.3:c.244A>G	NP_954630.1:p.Asn82Asp
NM_000331.5:c.244A>G	NP_000322.2:p.Asn82Asp
NM_001178006.2:c.244A>G	NP_001171477.1:p.Asn82Asp
NM_199161.4:c.244A>G	NP_954630.1:p.Asn82Asp
NM_199161.5:c.244A>G MANE Select	NP_954630.2:p.Asn82Asp
NM_000331.6:c.244A>G	NP_000322.3:p.Asn82Asp
NM_001178006.3:c.244A>G	NP_001171477.2:p.Asn82Asp