Canonical Allele Identifier: CA360999627

Gene: SAR1B

Linked Data

• MyVariant Identifiers: chr5:g.133942710A>C (hg19) ; chr5:g.134607020A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134607020A>C , CM000667.2:g.134607020A>C	GRCh38
NC_000005.9:g.133942710A>C , CM000667.1:g.133942710A>C	GRCh37
NC_000005.8:g.133970609A>C	NCBI36
NG_017002.1:g.30824T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402673.7:c.527T>G MANE Select	ENSP00000385432.2:p.Phe176Cys
ENST00000402673.6:c.527T>G	ENSP00000385432.2:p.Phe176Cys
ENST00000439578.5:c.527T>G	ENSP00000404997.1:p.Phe176Cys
ENST00000502539.5:c.323T>G	ENSP00000426335.1:p.Phe108Cys
ENST00000503318.5:c.*250T>G	ENSP00000425367.1:n.*250T>G
ENST00000507419.5:c.323T>G	ENSP00000425339.1:p.Phe108Cys
ENST00000508363.5:n.2496T>G
ENST00000509730.5:c.323T>G	ENSP00000423197.1:p.Phe108Cys
ENST00000509937.5:c.323T>G	ENSP00000424673.1:p.Phe108Cys
NM_001033503.2:c.527T>G	NP_001028675.1:p.Phe176Cys
NM_016103.3:c.527T>G	NP_057187.1:p.Phe176Cys
NM_016103.4:c.527T>G MANE Select	NP_057187.1:p.Phe176Cys
NM_001033503.3:c.527T>G	NP_001028675.1:p.Phe176Cys