Canonical Allele Identifier: CA2604542639
Gene: SAR1B HGNC NCBI

Linked Data

dbSNP Id: rs1324151644
gnomAD v3: 5-134606912-G-C
gnomAD v4: 5-134606912-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.134606912G>C , CM000667.2:g.134606912G>C GRCh38
NC_000005.9:g.133942602G>C , CM000667.1:g.133942602G>C GRCh37
NC_000005.8:g.133970501G>C NCBI36
NG_017002.1:g.30932C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000402673.7:c.*38C>G MANE Select ENSP00000385432.2:n.*38C>G
ENST00000402673.6:c.*38C>G ENSP00000385432.2:n.*38C>G
ENST00000439578.5:c.*38C>G ENSP00000404997.1:n.*38C>G
ENST00000502539.5:c.*38C>G ENSP00000426335.1:n.*38C>G
ENST00000507419.5:c.*38C>G ENSP00000425339.1:n.*38C>G
ENST00000508363.5:n.2604C>G
NM_001033503.2:c.*38C>G NP_001028675.1:n.*38C>G
NM_016103.3:c.*38C>G NP_057187.1:n.*38C>G
NM_016103.4:c.*38C>G MANE Select NP_057187.1:n.*38C>G
NM_001033503.3:c.*38C>G NP_001028675.1:n.*38C>G
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