Canonical Allele Identifier: CA273924
Gene: SLC37A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 188762
dbSNP Id: rs781784543

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119026979G>A , CM000673.2:g.119026979G>A GRCh38
NC_000011.9:g.118897689G>A , CM000673.1:g.118897689G>A GRCh37
NC_000011.8:g.118402899G>A NCBI36
NG_013331.1:g.8927C>T , LRG_187:g.8927C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000638186.1:n.1046C>T
ENST00000638360.1:n.878C>T
ENST00000638925.1:n.979C>T
ENST00000650539.1:n.1148C>T
ENST00000330775.9:c.742C>T ENSP00000476242.2:p.Gln248Ter
ENST00000357590.9:c.742C>T ENSP00000476176.2:p.Gln248Ter
ENST00000524428.5:n.1064C>T
ENST00000525039.5:n.1166C>T
ENST00000525102.5:n.1500C>T
ENST00000525372.5:n.743C>T
ENST00000526275.5:n.1524C>T
ENST00000526626.6:n.705C>T
ENST00000527992.5:n.970C>T
ENST00000529510.5:n.516C>T
ENST00000530407.5:n.892C>T
ENST00000532085.1:n.3353C>T
ENST00000532888.6:n.1038C>T
ENST00000538950.5:c.523C>T ENSP00000475991.2:p.Gln175Ter
ENST00000545985.5:c.742C>T ENSP00000475241.2:p.Gln248Ter
NM_001164277.1:c.742C>T , LRG_187t1:c.742C>T NP_001157749.1:p.Gln248Ter
NM_001164278.1:c.742C>T NP_001157750.1:p.Gln248Ter
NM_001164279.1:c.523C>T NP_001157751.1:p.Gln175Ter
NM_001164280.1:c.742C>T NP_001157752.1:p.Gln248Ter
NM_001467.5:c.742C>T NP_001458.1:p.Gln248Ter
NM_001164278.2:c.742C>T NP_001157750.1:p.Gln248Ter
NM_001164279.2:c.523C>T NP_001157751.1:p.Gln175Ter
NM_001164280.2:c.742C>T NP_001157752.1:p.Gln248Ter
NM_001467.6:c.742C>T NP_001458.1:p.Gln248Ter
NM_001164277.2:c.742C>T NP_001157749.1:p.Gln248Ter