Canonical Allele Identifier: CA562822830

Gene: SAR1B

Linked Data

• dbSNP Id: rs1266041041
• gnomAD v2: 5-133956616-T-C
• gnomAD v3: 5-134620926-T-C
• gnomAD v4: 5-134620926-T-C
• MyVariant Identifiers: chr5:g.133956616T>C (hg19) ; chr5:g.134620926T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134620926T>C , CM000667.2:g.134620926T>C	GRCh38
NC_000005.9:g.133956616T>C , CM000667.1:g.133956616T>C	GRCh37
NC_000005.8:g.133984515T>C	NCBI36
NG_017002.1:g.16918A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000402673.7:c.178+7A>G MANE Select	ENSP00000385432.2:n.178+7A>G
ENST00000402673.6:c.178+7A>G	ENSP00000385432.2:n.178+7A>G
ENST00000439578.5:c.178+7A>G	ENSP00000404997.1:n.178+7A>G
ENST00000502286.1:c.178+7A>G	ENSP00000423005.1:n.178+7A>G
ENST00000503318.5:c.178+7A>G	ENSP00000425367.1:n.178+7A>G
ENST00000505758.5:c.178+7A>G	ENSP00000425466.1:n.178+7A>G
ENST00000507419.5:c.-149+7A>G	ENSP00000425339.1:n.-149+7A>G
NM_001033503.2:c.178+7A>G	NP_001028675.1:n.178+7A>G
NM_016103.3:c.178+7A>G	NP_057187.1:n.178+7A>G
NM_016103.4:c.178+7A>G MANE Select	NP_057187.1:n.178+7A>G
NM_001033503.3:c.178+7A>G	NP_001028675.1:n.178+7A>G