Canonical Allele Identifier: CA355143822
Gene: SLC33A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.155853652A>G , CM000665.2:g.155853652A>G GRCh38
NC_000003.11:g.155571441A>G , CM000665.1:g.155571441A>G GRCh37
NC_000003.10:g.157054135A>G NCBI36
NG_023365.1:g.5808T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000468581.2:c.346T>C ENSP00000418847.2:p.Phe116Leu
ENST00000642438.1:c.346T>C ENSP00000495971.1:p.Phe116Leu
ENST00000643144.2:c.346T>C MANE Select ENSP00000496241.1:p.Phe116Leu
ENST00000643876.1:c.346T>C ENSP00000495323.1:p.Phe116Leu
ENST00000644094.1:c.346T>C ENSP00000494476.1:p.Phe116Leu
ENST00000644855.1:c.346T>C ENSP00000493564.1:p.Phe116Leu
ENST00000646424.1:c.346T>C ENSP00000494846.1:p.Phe116Leu
ENST00000359479.7:c.346T>C ENSP00000352456.3:p.Phe116Leu
ENST00000392845.7:c.346T>C ENSP00000376587.2:p.Phe116Leu
NM_001190992.1:c.346T>C NP_001177921.1:p.Phe116Leu
NM_004733.3:c.346T>C NP_004724.1:p.Phe116Leu
XM_006713822.2:c.346T>C XP_006713885.1:p.Phe116Leu
XM_011513311.1:c.346T>C XP_011511613.1:p.Phe116Leu
XM_011513312.1:c.346T>C XP_011511614.1:p.Phe116Leu
NM_001363883.1:c.346T>C NP_001350812.1:p.Phe116Leu
XM_011513311.3:c.346T>C XP_011511613.1:p.Phe116Leu
XM_017007463.1:c.-280T>C XP_016862952.1:n.-280T>C
XM_017007464.1:c.-280T>C XP_016862953.1:n.-280T>C
XR_001740361.2:n.1707T>C
XR_001740362.2:n.1707T>C
XR_002959605.1:n.1707T>C
NM_004733.4:c.346T>C MANE Select NP_004724.1:p.Phe116Leu
NM_001190992.2:c.346T>C NP_001177921.1:p.Phe116Leu