Canonical Allele Identifier: CA115875
Gene: SAR1B HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.134621002C>T
GRCh37 chr5:g.133956692C>T
Revel Score:
ENST00000402673 (MANE Select) 0.971
ENST00000439578 0.971
ENST00000505758 0.971
ENST00000502286 0.971
ClinVar Allele:
17961
ClinVar RCV:
RCV000003056
ClinVar Variation:
2922
dbSNP:
121917846
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.134621002C>T , CM000667.2:g.134621002C>T GRCh38
NC_000005.9:g.133956692C>T , CM000667.1:g.133956692C>T GRCh37
NC_000005.8:g.133984591C>T NCBI36
NG_017002.1:g.16842G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000402673.7:c.109G>A MANE Select ENSP00000385432.2:p.Gly37Arg
ENST00000402673.6:c.109G>A ENSP00000385432.2:p.Gly37Arg
ENST00000439578.5:c.109G>A ENSP00000404997.1:p.Gly37Arg
ENST00000502286.1:c.109G>A ENSP00000423005.1:p.Gly37Arg
ENST00000503318.5:c.109G>A ENSP00000425367.1:p.Gly37Arg
ENST00000505758.5:c.109G>A ENSP00000425466.1:p.Gly37Arg
ENST00000507419.5:c.-217-1G>A ENSP00000425339.1:n.-217-1G>A
NM_001033503.2:c.109G>A NP_001028675.1:p.Gly37Arg
NM_016103.3:c.109G>A NP_057187.1:p.Gly37Arg
NM_016103.4:c.109G>A MANE Select NP_057187.1:p.Gly37Arg
NM_001033503.3:c.109G>A NP_001028675.1:p.Gly37Arg
Search 100 bp 5'
Search 100 bp 3'