Canonical Allele Identifier: CA446505363

Gene: SAR1B

Linked Data

• gnomAD v4: 5-134607025-T-C
• MyVariant Identifiers: chr5:g.133942715T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134607025T>C , CM000667.2:g.134607025T>C	GRCh38
NC_000005.9:g.133942715T>C , CM000667.1:g.133942715T>C	GRCh37
NC_000005.8:g.133970614T>C	NCBI36
NG_017002.1:g.30819A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402673.7:c.522A>G MANE Select	ENSP00000385432.2:p.Glu174=
ENST00000402673.6:c.522A>G	ENSP00000385432.2:p.Glu174=
ENST00000439578.5:c.522A>G	ENSP00000404997.1:p.Glu174=
ENST00000502539.5:c.318A>G	ENSP00000426335.1:p.Glu106=
ENST00000503318.5:c.*245A>G	ENSP00000425367.1:n.*245A>G
ENST00000507419.5:c.318A>G	ENSP00000425339.1:p.Glu106=
ENST00000508363.5:n.2491A>G
ENST00000509730.5:c.318A>G	ENSP00000423197.1:p.Glu106=
ENST00000509937.5:c.318A>G	ENSP00000424673.1:p.Glu106=
NM_001033503.2:c.522A>G	NP_001028675.1:p.Glu174=
NM_016103.3:c.522A>G	NP_057187.1:p.Glu174=
NM_016103.4:c.522A>G MANE Select	NP_057187.1:p.Glu174=
NM_001033503.3:c.522A>G	NP_001028675.1:p.Glu174=