Canonical Allele Identifier: CA117967

Gene: SLC33A1

Linked Data

• ClinVar Variation Id: 6132
• ClinVar RCV Id: RCV000006506
• dbSNP Id: rs121909484
• MyVariant Identifiers: chr3:g.155571448A>C (hg19) ; chr3:g.155853659A>C (hg38)
• PubMed: PMID:19061983 ; PMID:25402622

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.155853659A>C , CM000665.2:g.155853659A>C	GRCh38
NC_000003.11:g.155571448A>C , CM000665.1:g.155571448A>C	GRCh37
NC_000003.10:g.157054142A>C	NCBI36
NG_023365.1:g.5801T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000468581.2:c.339T>G	ENSP00000418847.2:p.Ser113Arg
ENST00000642438.1:c.339T>G	ENSP00000495971.1:p.Ser113Arg
ENST00000643144.2:c.339T>G MANE Select	ENSP00000496241.1:p.Ser113Arg
ENST00000643876.1:c.339T>G	ENSP00000495323.1:p.Ser113Arg
ENST00000644094.1:c.339T>G	ENSP00000494476.1:p.Ser113Arg
ENST00000644855.1:c.339T>G	ENSP00000493564.1:p.Ser113Arg
ENST00000646424.1:c.339T>G	ENSP00000494846.1:p.Ser113Arg
ENST00000359479.7:c.339T>G	ENSP00000352456.3:p.Ser113Arg
ENST00000392845.7:c.339T>G	ENSP00000376587.2:p.Ser113Arg
NM_001190992.1:c.339T>G	NP_001177921.1:p.Ser113Arg
NM_004733.3:c.339T>G	NP_004724.1:p.Ser113Arg
XM_006713822.2:c.339T>G	XP_006713885.1:p.Ser113Arg
XM_011513311.1:c.339T>G	XP_011511613.1:p.Ser113Arg
XM_011513312.1:c.339T>G	XP_011511614.1:p.Ser113Arg
NM_001363883.1:c.339T>G	NP_001350812.1:p.Ser113Arg
XM_011513311.3:c.339T>G	XP_011511613.1:p.Ser113Arg
XM_017007463.1:c.-287T>G	XP_016862952.1:n.-287T>G
XM_017007464.1:c.-287T>G	XP_016862953.1:n.-287T>G
XR_001740361.2:n.1700T>G
XR_001740362.2:n.1700T>G
XR_002959605.1:n.1700T>G
NM_004733.4:c.339T>G MANE Select	NP_004724.1:p.Ser113Arg
NM_001190992.2:c.339T>G	NP_001177921.1:p.Ser113Arg