Canonical Allele Identifier: CA382897391
Gene: SLC37A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119026001A>C , CM000673.2:g.119026001A>C GRCh38
NC_000011.9:g.118896711A>C , CM000673.1:g.118896711A>C GRCh37
NC_000011.8:g.118401921A>C NCBI36
NG_013331.1:g.9905T>G , LRG_187:g.9905T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000529510.6:n.1094T>G
ENST00000697845.1:n.1874T>G
ENST00000697846.1:n.1094T>G
ENST00000697847.1:n.1202-244T>G
ENST00000697848.1:n.1180T>G
ENST00000697849.1:n.2989T>G
ENST00000697850.1:n.1180T>G
ENST00000697851.1:n.2788T>G
ENST00000638186.1:n.1254T>G
ENST00000638360.1:n.1086T>G
ENST00000638925.1:n.1219T>G
ENST00000650539.1:n.1356T>G
ENST00000330775.9:c.950T>G ENSP00000476242.2:p.Leu317Arg
ENST00000357590.9:c.950T>G ENSP00000476176.2:p.Leu317Arg
ENST00000524428.5:n.1186T>G
ENST00000525039.5:n.1374T>G
ENST00000525102.5:n.1708T>G
ENST00000525372.5:n.1048T>G
ENST00000526275.5:n.1732T>G
ENST00000527992.5:n.1178T>G
ENST00000529510.5:n.638T>G
ENST00000530407.5:n.1100T>G
ENST00000532085.1:n.4331T>G
ENST00000538950.5:c.731T>G ENSP00000475991.2:p.Leu244Arg
ENST00000545985.5:c.950T>G ENSP00000475241.2:p.Leu317Arg
NM_001164277.1:c.950T>G , LRG_187t1:c.950T>G NP_001157749.1:p.Leu317Arg
NM_001164278.1:c.950T>G NP_001157750.1:p.Leu317Arg
NM_001164279.1:c.731T>G NP_001157751.1:p.Leu244Arg
NM_001164280.1:c.950T>G NP_001157752.1:p.Leu317Arg
NM_001467.5:c.950T>G NP_001458.1:p.Leu317Arg
NM_001164278.2:c.950T>G NP_001157750.1:p.Leu317Arg
NM_001164279.2:c.731T>G NP_001157751.1:p.Leu244Arg
NM_001164280.2:c.950T>G NP_001157752.1:p.Leu317Arg
NM_001467.6:c.950T>G NP_001458.1:p.Leu317Arg
NM_001164277.2:c.950T>G MANE Select NP_001157749.1:p.Leu317Arg