Canonical Allele Identifier: CA382900529
Gene: SLC37A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119026674T>G , CM000673.2:g.119026674T>G GRCh38
NC_000011.9:g.118897384T>G , CM000673.1:g.118897384T>G GRCh37
NC_000011.8:g.118402594T>G NCBI36
NG_013331.1:g.9232A>C , LRG_187:g.9232A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000529510.6:n.1014+263A>C
ENST00000697845.1:n.1201A>C
ENST00000697846.1:n.1014+263A>C
ENST00000697847.1:n.1029A>C
ENST00000697848.1:n.1029A>C
ENST00000697849.1:n.2316A>C
ENST00000697850.1:n.1029A>C
ENST00000697851.1:n.2637A>C
ENST00000638186.1:n.1103A>C
ENST00000638360.1:n.935A>C
ENST00000638925.1:n.1036A>C
ENST00000650539.1:n.1205A>C
ENST00000330775.9:c.799A>C ENSP00000476242.2:p.Ser267Arg
ENST00000357590.9:c.799A>C ENSP00000476176.2:p.Ser267Arg
ENST00000524428.5:n.1106+263A>C
ENST00000525039.5:n.1223A>C
ENST00000525102.5:n.1557A>C
ENST00000525372.5:n.800A>C
ENST00000526275.5:n.1581A>C
ENST00000527992.5:n.1027A>C
ENST00000529510.5:n.558+263A>C
ENST00000530407.5:n.949A>C
ENST00000532085.1:n.3658A>C
ENST00000532888.6:n.1343A>C
ENST00000538950.5:c.580A>C ENSP00000475991.2:p.Ser194Arg
ENST00000545985.5:c.799A>C ENSP00000475241.2:p.Ser267Arg
NM_001164277.1:c.799A>C , LRG_187t1:c.799A>C NP_001157749.1:p.Ser267Arg
NM_001164278.1:c.799A>C NP_001157750.1:p.Ser267Arg
NM_001164279.1:c.580A>C NP_001157751.1:p.Ser194Arg
NM_001164280.1:c.799A>C NP_001157752.1:p.Ser267Arg
NM_001467.5:c.799A>C NP_001458.1:p.Ser267Arg
NM_001164278.2:c.799A>C NP_001157750.1:p.Ser267Arg
NM_001164279.2:c.580A>C NP_001157751.1:p.Ser194Arg
NM_001164280.2:c.799A>C NP_001157752.1:p.Ser267Arg
NM_001467.6:c.799A>C NP_001458.1:p.Ser267Arg
NM_001164277.2:c.799A>C MANE Select NP_001157749.1:p.Ser267Arg