Canonical Allele Identifier: CA361000166

Gene: SAR1B

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134608443C>G , CM000667.2:g.134608443C>G	GRCh38
NC_000005.9:g.133944133C>G , CM000667.1:g.133944133C>G	GRCh37
NC_000005.8:g.133972032C>G	NCBI36
NG_017002.1:g.29401G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402673.7:c.409G>C MANE Select	ENSP00000385432.2:p.Asp137His
ENST00000402673.6:c.409G>C	ENSP00000385432.2:p.Asp137His
ENST00000439578.5:c.409G>C	ENSP00000404997.1:p.Asp137His
ENST00000502539.5:c.205G>C	ENSP00000426335.1:p.Asp69His
ENST00000503318.5:c.*132G>C	ENSP00000425367.1:n.*132G>C
ENST00000505758.5:c.409G>C	ENSP00000425466.1:p.Asp137His
ENST00000507419.5:c.205G>C	ENSP00000425339.1:p.Asp69His
ENST00000508363.5:n.2378G>C
ENST00000509730.5:c.205G>C	ENSP00000423197.1:p.Asp69His
ENST00000509937.5:c.205G>C	ENSP00000424673.1:p.Asp69His
NM_001033503.2:c.409G>C	NP_001028675.1:p.Asp137His
NM_016103.3:c.409G>C	NP_057187.1:p.Asp137His
NM_016103.4:c.409G>C MANE Select	NP_057187.1:p.Asp137His
NM_001033503.3:c.409G>C	NP_001028675.1:p.Asp137His