Canonical Allele Identifier: CA3414389

Gene: SAR1B

Linked Data

• dbSNP Id: rs760283624
• ExAC: 5:133942611 T / C
• gnomAD v2: 5-133942611-T-C
• gnomAD v4: 5-134606921-T-C
• MyVariant Identifiers: chr5:g.133942611T>C (hg19) ; chr5:g.134606921T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134606921T>C , CM000667.2:g.134606921T>C	GRCh38
NC_000005.9:g.133942611T>C , CM000667.1:g.133942611T>C	GRCh37
NC_000005.8:g.133970510T>C	NCBI36
NG_017002.1:g.30923A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000402673.7:c.*29A>G MANE Select	ENSP00000385432.2:n.*29A>G
ENST00000402673.6:c.*29A>G	ENSP00000385432.2:n.*29A>G
ENST00000439578.5:c.*29A>G	ENSP00000404997.1:n.*29A>G
ENST00000502539.5:c.*29A>G	ENSP00000426335.1:n.*29A>G
ENST00000507419.5:c.*29A>G	ENSP00000425339.1:n.*29A>G
ENST00000508363.5:n.2595A>G
NM_001033503.2:c.*29A>G	NP_001028675.1:n.*29A>G
NM_016103.3:c.*29A>G	NP_057187.1:n.*29A>G
NM_016103.4:c.*29A>G MANE Select	NP_057187.1:n.*29A>G
NM_001033503.3:c.*29A>G	NP_001028675.1:n.*29A>G