Canonical Allele Identifier: CA379505115

Gene: SAA1

Linked Data

• gnomAD v4: 11-18269334-G-A
• MyVariant Identifiers: chr11:g.18290881G>A (hg19) ; chr11:g.18269334G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18269334G>A , CM000673.2:g.18269334G>A	GRCh38
NC_000011.9:g.18290881G>A , CM000673.1:g.18290881G>A	GRCh37
NC_000011.8:g.18247457G>A	NCBI36
NG_021330.1:g.8074G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000689650.1:c.231G>A	ENSP00000509190.1:p.Thr77=
ENST00000356524.9:c.230+1G>A MANE Select	ENSP00000348918.4:n.230+1G>A
ENST00000649195.1:c.231G>A	ENSP00000497498.1:p.Thr77=
ENST00000356524.8:c.230+1G>A	ENSP00000348918.4:n.230+1G>A
ENST00000405158.2:c.230+1G>A	ENSP00000384906.2:n.230+1G>A
ENST00000532858.5:c.230+1G>A	ENSP00000436866.1:n.230+1G>A
NM_000331.4:c.230+1G>A	NP_000322.2:n.230+1G>A
NM_001178006.1:c.230+1G>A	NP_001171477.1:n.230+1G>A
NM_199161.3:c.230+1G>A	NP_954630.1:n.230+1G>A
NM_000331.5:c.230+1G>A	NP_000322.2:n.230+1G>A
NM_001178006.2:c.230+1G>A	NP_001171477.1:n.230+1G>A
NM_199161.4:c.230+1G>A	NP_954630.1:n.230+1G>A
NM_199161.5:c.230+1G>A MANE Select	NP_954630.2:n.230+1G>A
NM_000331.6:c.230+1G>A	NP_000322.3:n.230+1G>A
NM_001178006.3:c.230+1G>A	NP_001171477.2:n.230+1G>A