Canonical Allele Identifier: CA562819134

Gene: SAR1B

Linked Data

• dbSNP Id: rs1253922728
• gnomAD v2: 5-133942606-G-A
• gnomAD v4: 5-134606916-G-A
• MyVariant Identifiers: chr5:g.133942606G>A (hg19) ; chr5:g.134606916G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134606916G>A , CM000667.2:g.134606916G>A	GRCh38
NC_000005.9:g.133942606G>A , CM000667.1:g.133942606G>A	GRCh37
NC_000005.8:g.133970505G>A	NCBI36
NG_017002.1:g.30928C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000402673.7:c.*34C>T MANE Select	ENSP00000385432.2:n.*34C>T
ENST00000402673.6:c.*34C>T	ENSP00000385432.2:n.*34C>T
ENST00000439578.5:c.*34C>T	ENSP00000404997.1:n.*34C>T
ENST00000502539.5:c.*34C>T	ENSP00000426335.1:n.*34C>T
ENST00000507419.5:c.*34C>T	ENSP00000425339.1:n.*34C>T
ENST00000508363.5:n.2600C>T
NM_001033503.2:c.*34C>T	NP_001028675.1:n.*34C>T
NM_016103.3:c.*34C>T	NP_057187.1:n.*34C>T
NM_016103.4:c.*34C>T MANE Select	NP_057187.1:n.*34C>T
NM_001033503.3:c.*34C>T	NP_001028675.1:n.*34C>T