Canonical Allele Identifier: CA360999601
Gene: SAR1B HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.133942700A>C (hg19) chr5:g.134607010A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.134607010A>C , CM000667.2:g.134607010A>C GRCh38
NC_000005.9:g.133942700A>C , CM000667.1:g.133942700A>C GRCh37
NC_000005.8:g.133970599A>C NCBI36
NG_017002.1:g.30834T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000402673.7:c.537T>G MANE Select ENSP00000385432.2:p.Ser179Arg
ENST00000402673.6:c.537T>G ENSP00000385432.2:p.Ser179Arg
ENST00000439578.5:c.537T>G ENSP00000404997.1:p.Ser179Arg
ENST00000502539.5:c.333T>G ENSP00000426335.1:p.Ser111Arg
ENST00000503318.5:c.*260T>G ENSP00000425367.1:n.*260T>G
ENST00000507419.5:c.333T>G ENSP00000425339.1:p.Ser111Arg
ENST00000508363.5:n.2506T>G
ENST00000509730.5:c.333T>G ENSP00000423197.1:p.Ser111Arg
ENST00000509937.5:c.333T>G ENSP00000424673.1:p.Ser111Arg
NM_001033503.2:c.537T>G NP_001028675.1:p.Ser179Arg
NM_016103.3:c.537T>G NP_057187.1:p.Ser179Arg
NM_016103.4:c.537T>G MANE Select NP_057187.1:p.Ser179Arg
NM_001033503.3:c.537T>G NP_001028675.1:p.Ser179Arg
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