Canonical Allele Identifier: CA355143690

Gene: SLC33A1

Linked Data

• ClinVar Variation Id: 2090115
• ClinVar RCV Id: RCV003020745
• gnomAD v4: 3-155853593-C-G
• MyVariant Identifiers: chr3:g.155571382C>G (hg19) ; chr3:g.155853593C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.155853593C>G , CM000665.2:g.155853593C>G	GRCh38
NC_000003.11:g.155571382C>G , CM000665.1:g.155571382C>G	GRCh37
NC_000003.10:g.157054076C>G	NCBI36
NG_023365.1:g.5867G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000468581.2:c.405G>C	ENSP00000418847.2:p.Lys135Asn
ENST00000642438.1:c.405G>C	ENSP00000495971.1:p.Lys135Asn
ENST00000643144.2:c.405G>C MANE Select	ENSP00000496241.1:p.Lys135Asn
ENST00000643876.1:c.405G>C	ENSP00000495323.1:p.Lys135Asn
ENST00000644094.1:c.405G>C	ENSP00000494476.1:p.Lys135Asn
ENST00000644855.1:c.405G>C	ENSP00000493564.1:p.Lys135Asn
ENST00000646424.1:c.405G>C	ENSP00000494846.1:p.Lys135Asn
ENST00000359479.7:c.405G>C	ENSP00000352456.3:p.Lys135Asn
ENST00000392845.7:c.405G>C	ENSP00000376587.2:p.Lys135Asn
NM_001190992.1:c.405G>C	NP_001177921.1:p.Lys135Asn
NM_004733.3:c.405G>C	NP_004724.1:p.Lys135Asn
XM_006713822.2:c.405G>C	XP_006713885.1:p.Lys135Asn
XM_011513311.1:c.405G>C	XP_011511613.1:p.Lys135Asn
XM_011513312.1:c.405G>C	XP_011511614.1:p.Lys135Asn
NM_001363883.1:c.405G>C	NP_001350812.1:p.Lys135Asn
XM_011513311.3:c.405G>C	XP_011511613.1:p.Lys135Asn
XM_017007463.1:c.-221G>C	XP_016862952.1:n.-221G>C
XM_017007464.1:c.-221G>C	XP_016862953.1:n.-221G>C
XR_001740361.2:n.1766G>C
XR_001740362.2:n.1766G>C
XR_002959605.1:n.1766G>C
NM_004733.4:c.405G>C MANE Select	NP_004724.1:p.Lys135Asn
NM_001190992.2:c.405G>C	NP_001177921.1:p.Lys135Asn