Canonical Allele Identifier: CA2612728407

Gene: SAA1

Linked Data

• gnomAD v4: 11-18269967-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18269967A>G , CM000673.2:g.18269967A>G	GRCh38
NC_000011.9:g.18291514A>G , CM000673.1:g.18291514A>G	GRCh37
NC_000011.8:g.18248090A>G	NCBI36
NG_021330.1:g.8707A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689650.1:c.*630A>G	ENSP00000509190.1:n.*630A>G
ENST00000356524.9:c.*112A>G MANE Select	ENSP00000348918.4:n.*112A>G
ENST00000356524.8:c.*112A>G	ENSP00000348918.4:n.*112A>G
ENST00000405158.2:c.*112A>G	ENSP00000384906.2:n.*112A>G
ENST00000532858.5:c.*112A>G	ENSP00000436866.1:n.*112A>G
NM_000331.4:c.*112A>G	NP_000322.2:n.*112A>G
NM_001178006.1:c.*112A>G	NP_001171477.1:n.*112A>G
NM_199161.3:c.*112A>G	NP_954630.1:n.*112A>G
NM_000331.5:c.*112A>G	NP_000322.2:n.*112A>G
NM_001178006.2:c.*112A>G	NP_001171477.1:n.*112A>G
NM_199161.4:c.*112A>G	NP_954630.1:n.*112A>G
NM_199161.5:c.*112A>G MANE Select	NP_954630.2:n.*112A>G
NM_000331.6:c.*112A>G	NP_000322.3:n.*112A>G
NM_001178006.3:c.*112A>G	NP_001171477.2:n.*112A>G