Canonical Allele Identifier: CA379504974

Gene: SAA1

Linked Data

• gnomAD v4: 11-18269317-G-A
• MyVariant Identifiers: chr11:g.18290864G>A (hg19) ; chr11:g.18269317G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18269317G>A , CM000673.2:g.18269317G>A	GRCh38
NC_000011.9:g.18290864G>A , CM000673.1:g.18290864G>A	GRCh37
NC_000011.8:g.18247440G>A	NCBI36
NG_021330.1:g.8057G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689650.1:c.214G>A	ENSP00000509190.1:p.Ala72Thr
ENST00000356524.9:c.214G>A MANE Select	ENSP00000348918.4:p.Ala72Thr
ENST00000649195.1:c.214G>A	ENSP00000497498.1:p.Ala72Thr
ENST00000356524.8:c.214G>A	ENSP00000348918.4:p.Ala72Thr
ENST00000405158.2:c.214G>A	ENSP00000384906.2:p.Ala72Thr
ENST00000532858.5:c.214G>A	ENSP00000436866.1:p.Ala72Thr
NM_000331.4:c.214G>A	NP_000322.2:p.Ala72Thr
NM_001178006.1:c.214G>A	NP_001171477.1:p.Ala72Thr
NM_199161.3:c.214G>A	NP_954630.1:p.Ala72Thr
NM_000331.5:c.214G>A	NP_000322.2:p.Ala72Thr
NM_001178006.2:c.214G>A	NP_001171477.1:p.Ala72Thr
NM_199161.4:c.214G>A	NP_954630.1:p.Ala72Thr
NM_199161.5:c.214G>A MANE Select	NP_954630.2:p.Ala72Thr
NM_000331.6:c.214G>A	NP_000322.3:p.Ala72Thr
NM_001178006.3:c.214G>A	NP_001171477.2:p.Ala72Thr