Canonical Allele Identifier: CA379506686

Gene: SAA1

Linked Data

• MyVariant Identifiers: chr11:g.18291382G>T (hg19) ; chr11:g.18269835G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18269835G>T , CM000673.2:g.18269835G>T	GRCh38
NC_000011.9:g.18291382G>T , CM000673.1:g.18291382G>T	GRCh37
NC_000011.8:g.18247958G>T	NCBI36
NG_021330.1:g.8575G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689650.1:c.*498G>T	ENSP00000509190.1:n.*498G>T
ENST00000356524.9:c.349G>T MANE Select	ENSP00000348918.4:p.Gly117Cys
ENST00000649195.1:c.*146G>T	ENSP00000497498.1:n.*146G>T
ENST00000356524.8:c.349G>T	ENSP00000348918.4:p.Gly117Cys
ENST00000405158.2:c.349G>T	ENSP00000384906.2:p.Gly117Cys
ENST00000532858.5:c.349G>T	ENSP00000436866.1:p.Gly117Cys
NM_000331.4:c.349G>T	NP_000322.2:p.Gly117Cys
NM_001178006.1:c.349G>T	NP_001171477.1:p.Gly117Cys
NM_199161.3:c.349G>T	NP_954630.1:p.Gly117Cys
NM_000331.5:c.349G>T	NP_000322.2:p.Gly117Cys
NM_001178006.2:c.349G>T	NP_001171477.1:p.Gly117Cys
NM_199161.4:c.349G>T	NP_954630.1:p.Gly117Cys
NM_199161.5:c.349G>T MANE Select	NP_954630.2:p.Gly117Cys
NM_000331.6:c.349G>T	NP_000322.3:p.Gly117Cys
NM_001178006.3:c.349G>T	NP_001171477.2:p.Gly117Cys