Canonical Allele Identifier: CA127966647

Gene: SAR1B

Linked Data

• dbSNP Id: rs1063699
• MyVariant Identifiers: chr5:g.133942712A>G (hg19) ; chr5:g.134607022A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134607022A>G , CM000667.2:g.134607022A>G	GRCh38
NC_000005.9:g.133942712A>G , CM000667.1:g.133942712A>G	GRCh37
NC_000005.8:g.133970611A>G	NCBI36
NG_017002.1:g.30822T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402673.7:c.525T>C MANE Select	ENSP00000385432.2:p.Val175=
ENST00000402673.6:c.525T>C	ENSP00000385432.2:p.Val175=
ENST00000439578.5:c.525T>C	ENSP00000404997.1:p.Val175=
ENST00000502539.5:c.321T>C	ENSP00000426335.1:p.Val107=
ENST00000503318.5:c.*248T>C	ENSP00000425367.1:n.*248T>C
ENST00000507419.5:c.321T>C	ENSP00000425339.1:p.Val107=
ENST00000508363.5:n.2494T>C
ENST00000509730.5:c.321T>C	ENSP00000423197.1:p.Val107=
ENST00000509937.5:c.321T>C	ENSP00000424673.1:p.Val107=
NM_001033503.2:c.525T>C	NP_001028675.1:p.Val175=
NM_016103.3:c.525T>C	NP_057187.1:p.Val175=
NM_016103.4:c.525T>C MANE Select	NP_057187.1:p.Val175=
NM_001033503.3:c.525T>C	NP_001028675.1:p.Val175=