Canonical Allele Identifier: CA382902906
Gene: SLC37A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1076732
ClinVar RCV Id: RCV001390723
dbSNP Id: rs1943618079

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119027760C>T , CM000673.2:g.119027760C>T GRCh38
NC_000011.9:g.118898470C>T , CM000673.1:g.118898470C>T GRCh37
NC_000011.8:g.118403680C>T NCBI36
NG_013331.1:g.8147G>A , LRG_187:g.8147G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000529510.6:n.723G>A
ENST00000697845.1:n.647G>A
ENST00000697846.1:n.723G>A
ENST00000697847.1:n.723G>A
ENST00000697848.1:n.723G>A
ENST00000697849.1:n.1762G>A
ENST00000697850.1:n.723G>A
ENST00000697851.1:n.2083G>A
ENST00000638186.1:n.797G>A
ENST00000638360.1:n.629G>A
ENST00000638925.1:n.730G>A
ENST00000650539.1:n.899G>A
ENST00000330775.9:c.494G>A ENSP00000476242.2:p.Trp165Ter
ENST00000357590.9:c.494G>A ENSP00000476176.2:p.Trp165Ter
ENST00000524428.5:n.815G>A
ENST00000525039.5:n.917G>A
ENST00000525102.5:n.1251G>A
ENST00000525372.5:n.494G>A
ENST00000526275.5:n.1275G>A
ENST00000526626.6:n.456G>A
ENST00000527992.5:n.721G>A
ENST00000529510.5:n.399+434G>A
ENST00000530407.5:n.643G>A
ENST00000532085.1:n.3104G>A
ENST00000532888.6:n.789G>A
ENST00000538950.5:c.275G>A ENSP00000475991.2:p.Trp92Ter
ENST00000545985.5:c.494G>A ENSP00000475241.2:p.Trp165Ter
NM_001164277.1:c.494G>A , LRG_187t1:c.494G>A NP_001157749.1:p.Trp165Ter
NM_001164278.1:c.494G>A NP_001157750.1:p.Trp165Ter
NM_001164279.1:c.275G>A NP_001157751.1:p.Trp92Ter
NM_001164280.1:c.494G>A NP_001157752.1:p.Trp165Ter
NM_001467.5:c.494G>A NP_001458.1:p.Trp165Ter
NM_001164278.2:c.494G>A NP_001157750.1:p.Trp165Ter
NM_001164279.2:c.275G>A NP_001157751.1:p.Trp92Ter
NM_001164280.2:c.494G>A NP_001157752.1:p.Trp165Ter
NM_001467.6:c.494G>A NP_001458.1:p.Trp165Ter
NM_001164277.2:c.494G>A MANE Select NP_001157749.1:p.Trp165Ter