Canonical Allele Identifier: CA379505859
Gene: SAA1 HGNC NCBI

Linked Data

dbSNP Id: rs1226683472
gnomAD v2: 11-18291291-C-G
gnomAD v4: 11-18269744-C-G
MyVariant Identifiers: chr11:g.18291291C>G (hg19) chr11:g.18269744C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.18269744C>G , CM000673.2:g.18269744C>G GRCh38
NC_000011.9:g.18291291C>G , CM000673.1:g.18291291C>G GRCh37
NC_000011.8:g.18247867C>G NCBI36
NG_021330.1:g.8484C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000689650.1:c.*407C>G ENSP00000509190.1:n.*407C>G
ENST00000356524.9:c.258C>G MANE Select ENSP00000348918.4:p.Phe86Leu
ENST00000649195.1:c.*55C>G ENSP00000497498.1:n.*55C>G
ENST00000356524.8:c.258C>G ENSP00000348918.4:p.Phe86Leu
ENST00000405158.2:c.258C>G ENSP00000384906.2:p.Phe86Leu
ENST00000532858.5:c.258C>G ENSP00000436866.1:p.Phe86Leu
NM_000331.4:c.258C>G NP_000322.2:p.Phe86Leu
NM_001178006.1:c.258C>G NP_001171477.1:p.Phe86Leu
NM_199161.3:c.258C>G NP_954630.1:p.Phe86Leu
NM_000331.5:c.258C>G NP_000322.2:p.Phe86Leu
NM_001178006.2:c.258C>G NP_001171477.1:p.Phe86Leu
NM_199161.4:c.258C>G NP_954630.1:p.Phe86Leu
NM_199161.5:c.258C>G MANE Select NP_954630.2:p.Phe86Leu
NM_000331.6:c.258C>G NP_000322.3:p.Phe86Leu
NM_001178006.3:c.258C>G NP_001171477.2:p.Phe86Leu
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