Canonical Allele Identifier: CA597451445

Gene: SAA1

Linked Data

• dbSNP Id: rs1219431280
• gnomAD v2: 11-18291404-C-T
• MyVariant Identifiers: chr11:g.18291404C>T (hg19) ; chr11:g.18269857C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18269857C>T , CM000673.2:g.18269857C>T	GRCh38
NC_000011.9:g.18291404C>T , CM000673.1:g.18291404C>T	GRCh37
NC_000011.8:g.18247980C>T	NCBI36
NG_021330.1:g.8597C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689650.1:c.*520C>T	ENSP00000509190.1:n.*520C>T
ENST00000356524.9:c.*2C>T MANE Select	ENSP00000348918.4:n.*2C>T
ENST00000649195.1:c.*168C>T	ENSP00000497498.1:n.*168C>T
ENST00000356524.8:c.*2C>T	ENSP00000348918.4:n.*2C>T
ENST00000405158.2:c.*2C>T	ENSP00000384906.2:n.*2C>T
ENST00000532858.5:c.*2C>T	ENSP00000436866.1:n.*2C>T
NM_000331.4:c.*2C>T	NP_000322.2:n.*2C>T
NM_001178006.1:c.*2C>T	NP_001171477.1:n.*2C>T
NM_199161.3:c.*2C>T	NP_954630.1:n.*2C>T
NM_000331.5:c.*2C>T	NP_000322.2:n.*2C>T
NM_001178006.2:c.*2C>T	NP_001171477.1:n.*2C>T
NM_199161.4:c.*2C>T	NP_954630.1:n.*2C>T
NM_199161.5:c.*2C>T MANE Select	NP_954630.2:n.*2C>T
NM_000331.6:c.*2C>T	NP_000322.3:n.*2C>T
NM_001178006.3:c.*2C>T	NP_001171477.2:n.*2C>T