Canonical Allele Identifier: CA2578412451
Gene: SAR1B HGNC NCBI

Linked Data

gnomAD v4: 5-134606922-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.134606922T>G , CM000667.2:g.134606922T>G GRCh38
NC_000005.9:g.133942612T>G , CM000667.1:g.133942612T>G GRCh37
NC_000005.8:g.133970511T>G NCBI36
NG_017002.1:g.30922A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000402673.7:c.*28A>C MANE Select ENSP00000385432.2:n.*28A>C
ENST00000402673.6:c.*28A>C ENSP00000385432.2:n.*28A>C
ENST00000439578.5:c.*28A>C ENSP00000404997.1:n.*28A>C
ENST00000502539.5:c.*28A>C ENSP00000426335.1:n.*28A>C
ENST00000507419.5:c.*28A>C ENSP00000425339.1:n.*28A>C
ENST00000508363.5:n.2594A>C
NM_001033503.2:c.*28A>C NP_001028675.1:n.*28A>C
NM_016103.3:c.*28A>C NP_057187.1:n.*28A>C
NM_016103.4:c.*28A>C MANE Select NP_057187.1:n.*28A>C
NM_001033503.3:c.*28A>C NP_001028675.1:n.*28A>C
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