Canonical Allele Identifier: CA382901477
Gene: SLC37A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119027045G>C , CM000673.2:g.119027045G>C GRCh38
NC_000011.9:g.118897755G>C , CM000673.1:g.118897755G>C GRCh37
NC_000011.8:g.118402965G>C NCBI36
NG_013331.1:g.8861C>G , LRG_187:g.8861C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000529510.6:n.906C>G
ENST00000697845.1:n.830C>G
ENST00000697846.1:n.906C>G
ENST00000697847.1:n.906C>G
ENST00000697848.1:n.906C>G
ENST00000697849.1:n.1945C>G
ENST00000697850.1:n.906C>G
ENST00000697851.1:n.2266C>G
ENST00000638186.1:n.980C>G
ENST00000638360.1:n.812C>G
ENST00000638925.1:n.913C>G
ENST00000650539.1:n.1082C>G
ENST00000330775.9:c.676C>G ENSP00000476242.2:p.Leu226Val
ENST00000357590.9:c.676C>G ENSP00000476176.2:p.Leu226Val
ENST00000524428.5:n.998C>G
ENST00000525039.5:n.1100C>G
ENST00000525102.5:n.1434C>G
ENST00000525372.5:n.677C>G
ENST00000526275.5:n.1458C>G
ENST00000526626.6:n.639C>G
ENST00000527992.5:n.904C>G
ENST00000529510.5:n.450C>G
ENST00000530407.5:n.826C>G
ENST00000532085.1:n.3287C>G
ENST00000532888.6:n.972C>G
ENST00000538950.5:c.457C>G ENSP00000475991.2:p.Leu153Val
ENST00000545985.5:c.676C>G ENSP00000475241.2:p.Leu226Val
NM_001164277.1:c.676C>G , LRG_187t1:c.676C>G NP_001157749.1:p.Leu226Val
NM_001164278.1:c.676C>G NP_001157750.1:p.Leu226Val
NM_001164279.1:c.457C>G NP_001157751.1:p.Leu153Val
NM_001164280.1:c.676C>G NP_001157752.1:p.Leu226Val
NM_001467.5:c.676C>G NP_001458.1:p.Leu226Val
NM_001164278.2:c.676C>G NP_001157750.1:p.Leu226Val
NM_001164279.2:c.457C>G NP_001157751.1:p.Leu153Val
NM_001164280.2:c.676C>G NP_001157752.1:p.Leu226Val
NM_001467.6:c.676C>G NP_001458.1:p.Leu226Val
NM_001164277.2:c.676C>G MANE Select NP_001157749.1:p.Leu226Val