Canonical Allele Identifier: CA382900478
Gene: SLC37A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119026668G>T , CM000673.2:g.119026668G>T GRCh38
NC_000011.9:g.118897378G>T , CM000673.1:g.118897378G>T GRCh37
NC_000011.8:g.118402588G>T NCBI36
NG_013331.1:g.9238C>A , LRG_187:g.9238C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000529510.6:n.1014+269C>A
ENST00000697845.1:n.1207C>A
ENST00000697846.1:n.1014+269C>A
ENST00000697847.1:n.1035C>A
ENST00000697848.1:n.1035C>A
ENST00000697849.1:n.2322C>A
ENST00000697850.1:n.1035C>A
ENST00000697851.1:n.2643C>A
ENST00000638186.1:n.1109C>A
ENST00000638360.1:n.941C>A
ENST00000638925.1:n.1042C>A
ENST00000650539.1:n.1211C>A
ENST00000330775.9:c.805C>A ENSP00000476242.2:p.Leu269Met
ENST00000357590.9:c.805C>A ENSP00000476176.2:p.Leu269Met
ENST00000524428.5:n.1106+269C>A
ENST00000525039.5:n.1229C>A
ENST00000525102.5:n.1563C>A
ENST00000525372.5:n.806C>A
ENST00000526275.5:n.1587C>A
ENST00000527992.5:n.1033C>A
ENST00000529510.5:n.558+269C>A
ENST00000530407.5:n.955C>A
ENST00000532085.1:n.3664C>A
ENST00000532888.6:n.1349C>A
ENST00000538950.5:c.586C>A ENSP00000475991.2:p.Leu196Met
ENST00000545985.5:c.805C>A ENSP00000475241.2:p.Leu269Met
NM_001164277.1:c.805C>A , LRG_187t1:c.805C>A NP_001157749.1:p.Leu269Met
NM_001164278.1:c.805C>A NP_001157750.1:p.Leu269Met
NM_001164279.1:c.586C>A NP_001157751.1:p.Leu196Met
NM_001164280.1:c.805C>A NP_001157752.1:p.Leu269Met
NM_001467.5:c.805C>A NP_001458.1:p.Leu269Met
NM_001164278.2:c.805C>A NP_001157750.1:p.Leu269Met
NM_001164279.2:c.586C>A NP_001157751.1:p.Leu196Met
NM_001164280.2:c.805C>A NP_001157752.1:p.Leu269Met
NM_001467.6:c.805C>A NP_001458.1:p.Leu269Met
NM_001164277.2:c.805C>A MANE Select NP_001157749.1:p.Leu269Met