Canonical Allele Identifier: CA2612728410

Gene: SAA1

Linked Data

• gnomAD v4: 11-18269972-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18269972T>G , CM000673.2:g.18269972T>G	GRCh38
NC_000011.9:g.18291519T>G , CM000673.1:g.18291519T>G	GRCh37
NC_000011.8:g.18248095T>G	NCBI36
NG_021330.1:g.8712T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356524.8:c.*117T>G	ENSP00000348918.4:n.*117T>G
ENST00000405158.2:c.*117T>G	ENSP00000384906.2:n.*117T>G
NM_000331.4:c.*117T>G	NP_000322.2:n.*117T>G
NM_001178006.1:c.*117T>G	NP_001171477.1:n.*117T>G
NM_199161.3:c.*117T>G	NP_954630.1:n.*117T>G
NM_000331.5:c.*117T>G	NP_000322.2:n.*117T>G
NM_001178006.2:c.*117T>G	NP_001171477.1:n.*117T>G
NM_199161.4:c.*117T>G	NP_954630.1:n.*117T>G