Canonical Allele Identifier: CA2612728363

Gene: SAA1

Linked Data

• gnomAD v4: 11-18269920-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18269920G>C , CM000673.2:g.18269920G>C	GRCh38
NC_000011.9:g.18291467G>C , CM000673.1:g.18291467G>C	GRCh37
NC_000011.8:g.18248043G>C	NCBI36
NG_021330.1:g.8660G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689650.1:c.*583G>C	ENSP00000509190.1:n.*583G>C
ENST00000356524.9:c.*65G>C MANE Select	ENSP00000348918.4:n.*65G>C
ENST00000649195.1:c.*231G>C	ENSP00000497498.1:n.*231G>C
ENST00000356524.8:c.*65G>C	ENSP00000348918.4:n.*65G>C
ENST00000405158.2:c.*65G>C	ENSP00000384906.2:n.*65G>C
ENST00000532858.5:c.*65G>C	ENSP00000436866.1:n.*65G>C
NM_000331.4:c.*65G>C	NP_000322.2:n.*65G>C
NM_001178006.1:c.*65G>C	NP_001171477.1:n.*65G>C
NM_199161.3:c.*65G>C	NP_954630.1:n.*65G>C
NM_000331.5:c.*65G>C	NP_000322.2:n.*65G>C
NM_001178006.2:c.*65G>C	NP_001171477.1:n.*65G>C
NM_199161.4:c.*65G>C	NP_954630.1:n.*65G>C
NM_199161.5:c.*65G>C MANE Select	NP_954630.2:n.*65G>C
NM_000331.6:c.*65G>C	NP_000322.3:n.*65G>C
NM_001178006.3:c.*65G>C	NP_001171477.2:n.*65G>C