Canonical Allele Identifier: CA382900193
Gene: SLC37A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119026641T>G , CM000673.2:g.119026641T>G GRCh38
NC_000011.9:g.118897351T>G , CM000673.1:g.118897351T>G GRCh37
NC_000011.8:g.118402561T>G NCBI36
NG_013331.1:g.9265A>C , LRG_187:g.9265A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000529510.6:n.1014+296A>C
ENST00000697845.1:n.1234A>C
ENST00000697846.1:n.1014+296A>C
ENST00000697847.1:n.1062A>C
ENST00000697848.1:n.1062A>C
ENST00000697849.1:n.2349A>C
ENST00000697850.1:n.1062A>C
ENST00000697851.1:n.2670A>C
ENST00000638186.1:n.1136A>C
ENST00000638360.1:n.968A>C
ENST00000638925.1:n.1069A>C
ENST00000650539.1:n.1238A>C
ENST00000330775.9:c.832A>C ENSP00000476242.2:p.Ile278Leu
ENST00000357590.9:c.832A>C ENSP00000476176.2:p.Ile278Leu
ENST00000524428.5:n.1106+296A>C
ENST00000525039.5:n.1256A>C
ENST00000525102.5:n.1590A>C
ENST00000525372.5:n.833A>C
ENST00000526275.5:n.1614A>C
ENST00000527992.5:n.1060A>C
ENST00000529510.5:n.558+296A>C
ENST00000530407.5:n.982A>C
ENST00000532085.1:n.3691A>C
ENST00000538950.5:c.613A>C ENSP00000475991.2:p.Ile205Leu
ENST00000545985.5:c.832A>C ENSP00000475241.2:p.Ile278Leu
NM_001164277.1:c.832A>C , LRG_187t1:c.832A>C NP_001157749.1:p.Ile278Leu
NM_001164278.1:c.832A>C NP_001157750.1:p.Ile278Leu
NM_001164279.1:c.613A>C NP_001157751.1:p.Ile205Leu
NM_001164280.1:c.832A>C NP_001157752.1:p.Ile278Leu
NM_001467.5:c.832A>C NP_001458.1:p.Ile278Leu
NM_001164278.2:c.832A>C NP_001157750.1:p.Ile278Leu
NM_001164279.2:c.613A>C NP_001157751.1:p.Ile205Leu
NM_001164280.2:c.832A>C NP_001157752.1:p.Ile278Leu
NM_001467.6:c.832A>C NP_001458.1:p.Ile278Leu
NM_001164277.2:c.832A>C MANE Select NP_001157749.1:p.Ile278Leu