Canonical Allele Identifier: CA15643668
Gene: SAR1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70150560A>G , CM000672.2:g.70150560A>G GRCh38
NC_000010.10:g.71910316A>G , CM000672.1:g.71910316A>G GRCh37
NC_000010.9:g.71580322A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000373241.9:c.*1916T>C MANE Select ENSP00000362338.4:n.*1916T>C
ENST00000373238.5:c.*1916T>C ENSP00000362335.1:n.*1916T>C
ENST00000373241.8:c.*1916T>C ENSP00000362338.4:n.*1916T>C
ENST00000373242.6:c.*1916T>C ENSP00000362339.1:n.*1916T>C
ENST00000431664.6:c.2473T>C ENSP00000399698.2:n.2473T>C
NM_001142648.1:c.*1916T>C NP_001136120.1:n.*1916T>C
NM_020150.4:c.*1916T>C NP_064535.1:n.*1916T>C
NM_020150.5:c.*1916T>C MANE Select NP_064535.1:n.*1916T>C
NM_001142648.2:c.*1916T>C NP_001136120.1:n.*1916T>C
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