Canonical Allele Identifier: CA355144383

Gene: SLC33A1

Linked Data

• MyVariant Identifiers: chr3:g.155571641C>T (hg19) ; chr3:g.155853852C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.155853852C>T , CM000665.2:g.155853852C>T	GRCh38
NC_000003.11:g.155571641C>T , CM000665.1:g.155571641C>T	GRCh37
NC_000003.10:g.157054335C>T	NCBI36
NG_023365.1:g.5608G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000468581.2:c.146G>A	ENSP00000418847.2:p.Arg49Lys
ENST00000642438.1:c.146G>A	ENSP00000495971.1:p.Arg49Lys
ENST00000643144.2:c.146G>A MANE Select	ENSP00000496241.1:p.Arg49Lys
ENST00000643876.1:c.146G>A	ENSP00000495323.1:p.Arg49Lys
ENST00000644094.1:c.146G>A	ENSP00000494476.1:p.Arg49Lys
ENST00000644855.1:c.146G>A	ENSP00000493564.1:p.Arg49Lys
ENST00000646424.1:c.146G>A	ENSP00000494846.1:p.Arg49Lys
ENST00000359479.7:c.146G>A	ENSP00000352456.3:p.Arg49Lys
ENST00000392845.7:c.146G>A	ENSP00000376587.2:p.Arg49Lys
NM_001190992.1:c.146G>A	NP_001177921.1:p.Arg49Lys
NM_004733.3:c.146G>A	NP_004724.1:p.Arg49Lys
XM_006713822.2:c.146G>A	XP_006713885.1:p.Arg49Lys
XM_011513311.1:c.146G>A	XP_011511613.1:p.Arg49Lys
XM_011513312.1:c.146G>A	XP_011511614.1:p.Arg49Lys
NM_001363883.1:c.146G>A	NP_001350812.1:p.Arg49Lys
XM_011513311.3:c.146G>A	XP_011511613.1:p.Arg49Lys
XM_017007463.1:c.-480G>A	XP_016862952.1:n.-480G>A
XM_017007464.1:c.-480G>A	XP_016862953.1:n.-480G>A
XR_001740361.2:n.1507G>A
XR_001740362.2:n.1507G>A
XR_002959605.1:n.1507G>A
NM_004733.4:c.146G>A MANE Select	NP_004724.1:p.Arg49Lys
NM_001190992.2:c.146G>A	NP_001177921.1:p.Arg49Lys