Canonical Allele Identifier: CA2675321739
Gene: SAR1B HGNC NCBI

Linked Data

gnomAD v4: 5-134606927-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.134606927C>T , CM000667.2:g.134606927C>T GRCh38
NC_000005.9:g.133942617C>T , CM000667.1:g.133942617C>T GRCh37
NC_000005.8:g.133970516C>T NCBI36
NG_017002.1:g.30917G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000402673.7:c.*23G>A MANE Select ENSP00000385432.2:n.*23G>A
ENST00000402673.6:c.*23G>A ENSP00000385432.2:n.*23G>A
ENST00000439578.5:c.*23G>A ENSP00000404997.1:n.*23G>A
ENST00000502539.5:c.*23G>A ENSP00000426335.1:n.*23G>A
ENST00000507419.5:c.*23G>A ENSP00000425339.1:n.*23G>A
ENST00000508363.5:n.2589G>A
NM_001033503.2:c.*23G>A NP_001028675.1:n.*23G>A
NM_016103.3:c.*23G>A NP_057187.1:n.*23G>A
NM_016103.4:c.*23G>A MANE Select NP_057187.1:n.*23G>A
NM_001033503.3:c.*23G>A NP_001028675.1:n.*23G>A
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