Canonical Allele Identifier: CA379505469

Gene: SAA1

Linked Data

• MyVariant Identifiers: chr11:g.18291266A>C (hg19) ; chr11:g.18269719A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18269719A>C , CM000673.2:g.18269719A>C	GRCh38
NC_000011.9:g.18291266A>C , CM000673.1:g.18291266A>C	GRCh37
NC_000011.8:g.18247842A>C	NCBI36
NG_021330.1:g.8459A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689650.1:c.*382A>C	ENSP00000509190.1:n.*382A>C
ENST00000356524.9:c.233A>C MANE Select	ENSP00000348918.4:p.Asp78Ala
ENST00000649195.1:c.*30A>C	ENSP00000497498.1:n.*30A>C
ENST00000356524.8:c.233A>C	ENSP00000348918.4:p.Asp78Ala
ENST00000405158.2:c.233A>C	ENSP00000384906.2:p.Asp78Ala
ENST00000532858.5:c.233A>C	ENSP00000436866.1:p.Asp78Ala
NM_000331.4:c.233A>C	NP_000322.2:p.Asp78Ala
NM_001178006.1:c.233A>C	NP_001171477.1:p.Asp78Ala
NM_199161.3:c.233A>C	NP_954630.1:p.Asp78Ala
NM_000331.5:c.233A>C	NP_000322.2:p.Asp78Ala
NM_001178006.2:c.233A>C	NP_001171477.1:p.Asp78Ala
NM_199161.4:c.233A>C	NP_954630.1:p.Asp78Ala
NM_199161.5:c.233A>C MANE Select	NP_954630.2:p.Asp78Ala
NM_000331.6:c.233A>C	NP_000322.3:p.Asp78Ala
NM_001178006.3:c.233A>C	NP_001171477.2:p.Asp78Ala