Canonical Allele Identifier: CA361003317

Gene: SAR1B

Linked Data

• dbSNP Id: rs1197180274
• gnomAD v3: 5-134620936-G-A
• gnomAD v4: 5-134620936-G-A
• COSMIC: COSM1696203
• MyVariant Identifiers: chr5:g.133956626G>A (hg19) ; chr5:g.134620936G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134620936G>A , CM000667.2:g.134620936G>A	GRCh38
NC_000005.9:g.133956626G>A , CM000667.1:g.133956626G>A	GRCh37
NC_000005.8:g.133984525G>A	NCBI36
NG_017002.1:g.16908C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000402673.7:c.175C>T MANE Select	ENSP00000385432.2:p.Pro59Ser
ENST00000402673.6:c.175C>T	ENSP00000385432.2:p.Pro59Ser
ENST00000439578.5:c.175C>T	ENSP00000404997.1:p.Pro59Ser
ENST00000502286.1:c.175C>T	ENSP00000423005.1:p.Pro59Ser
ENST00000503318.5:c.175C>T	ENSP00000425367.1:p.Pro59Ser
ENST00000505758.5:c.175C>T	ENSP00000425466.1:p.Pro59Ser
ENST00000507419.5:c.-152C>T	ENSP00000425339.1:n.-152C>T
NM_001033503.2:c.175C>T	NP_001028675.1:p.Pro59Ser
NM_016103.3:c.175C>T	NP_057187.1:p.Pro59Ser
NM_016103.4:c.175C>T MANE Select	NP_057187.1:p.Pro59Ser
NM_001033503.3:c.175C>T	NP_001028675.1:p.Pro59Ser