Canonical Allele Identifier: CA115877
Gene: SAR1B HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.134607010A>T
GRCh37 chr5:g.133942700A>T
Revel Score:
ENST00000394992 0.890
ENST00000402673 (MANE Select) 0.890
ENST00000507419 0.890
ENST00000502539 0.890
ENST00000439578 0.890
ENST00000509937 0.890
ENST00000509730 0.890
gnomAD v2:
5:133942700 A / T
gnomAD v3:
5:134607010 A / T
gnomAD v4:
chr5-134607010-A-T
Joint Max Group AF 0.00003748 (NFE)
Exomes Max Group AF 0.0000389 (NFE)
ClinVar RCV:
RCV000003059
RCV003398425
ClinVar Variation:
2925
dbSNP:
28942110
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.134607010A>T , CM000667.2:g.134607010A>T GRCh38
NC_000005.9:g.133942700A>T , CM000667.1:g.133942700A>T GRCh37
NC_000005.8:g.133970599A>T NCBI36
NG_017002.1:g.30834T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000402673.7:c.537T>A MANE Select ENSP00000385432.2:p.Ser179Arg
ENST00000402673.6:c.537T>A ENSP00000385432.2:p.Ser179Arg
ENST00000439578.5:c.537T>A ENSP00000404997.1:p.Ser179Arg
ENST00000502539.5:c.333T>A ENSP00000426335.1:p.Ser111Arg
ENST00000503318.5:c.*260T>A ENSP00000425367.1:n.*260T>A
ENST00000507419.5:c.333T>A ENSP00000425339.1:p.Ser111Arg
ENST00000508363.5:n.2506T>A
ENST00000509730.5:c.333T>A ENSP00000423197.1:p.Ser111Arg
ENST00000509937.5:c.333T>A ENSP00000424673.1:p.Ser111Arg
NM_001033503.2:c.537T>A NP_001028675.1:p.Ser179Arg
NM_016103.3:c.537T>A NP_057187.1:p.Ser179Arg
NM_016103.4:c.537T>A MANE Select NP_057187.1:p.Ser179Arg
NM_001033503.3:c.537T>A NP_001028675.1:p.Ser179Arg
Search 100 bp 5'
Search 100 bp 3'