Canonical Allele Identifier: CA360999608
Gene: SAR1B HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.134607012T>G , CM000667.2:g.134607012T>G GRCh38
NC_000005.9:g.133942702T>G , CM000667.1:g.133942702T>G GRCh37
NC_000005.8:g.133970601T>G NCBI36
NG_017002.1:g.30832A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000402673.7:c.535A>C MANE Select ENSP00000385432.2:p.Ser179Arg
ENST00000402673.6:c.535A>C ENSP00000385432.2:p.Ser179Arg
ENST00000439578.5:c.535A>C ENSP00000404997.1:p.Ser179Arg
ENST00000502539.5:c.331A>C ENSP00000426335.1:p.Ser111Arg
ENST00000503318.5:c.*258A>C ENSP00000425367.1:n.*258A>C
ENST00000507419.5:c.331A>C ENSP00000425339.1:p.Ser111Arg
ENST00000508363.5:n.2504A>C
ENST00000509730.5:c.331A>C ENSP00000423197.1:p.Ser111Arg
ENST00000509937.5:c.331A>C ENSP00000424673.1:p.Ser111Arg
NM_001033503.2:c.535A>C NP_001028675.1:p.Ser179Arg
NM_016103.3:c.535A>C NP_057187.1:p.Ser179Arg
NM_016103.4:c.535A>C MANE Select NP_057187.1:p.Ser179Arg
NM_001033503.3:c.535A>C NP_001028675.1:p.Ser179Arg