Canonical Allele Identifier: CA382901984
Gene: SLC37A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119027658G>T , CM000673.2:g.119027658G>T GRCh38
NC_000011.9:g.118898368G>T , CM000673.1:g.118898368G>T GRCh37
NC_000011.8:g.118403578G>T NCBI36
NG_013331.1:g.8248C>A , LRG_187:g.8248C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000529510.6:n.825C>A
ENST00000697845.1:n.749C>A
ENST00000697846.1:n.825C>A
ENST00000697847.1:n.825C>A
ENST00000697848.1:n.825C>A
ENST00000697849.1:n.1864C>A
ENST00000697850.1:n.825C>A
ENST00000697851.1:n.2185C>A
ENST00000638186.1:n.899C>A
ENST00000638360.1:n.731C>A
ENST00000638925.1:n.832C>A
ENST00000650539.1:n.1001C>A
ENST00000330775.9:c.595C>A ENSP00000476242.2:p.Leu199Met
ENST00000357590.9:c.595C>A ENSP00000476176.2:p.Leu199Met
ENST00000524428.5:n.917C>A
ENST00000525039.5:n.1019C>A
ENST00000525102.5:n.1353C>A
ENST00000525372.5:n.596C>A
ENST00000526275.5:n.1377C>A
ENST00000526626.6:n.558C>A
ENST00000527992.5:n.823C>A
ENST00000529510.5:n.399+536C>A
ENST00000530407.5:n.745C>A
ENST00000532085.1:n.3206C>A
ENST00000532888.6:n.891C>A
ENST00000538950.5:c.376C>A ENSP00000475991.2:p.Leu126Met
ENST00000545985.5:c.595C>A ENSP00000475241.2:p.Leu199Met
NM_001164277.1:c.595C>A , LRG_187t1:c.595C>A NP_001157749.1:p.Leu199Met
NM_001164278.1:c.595C>A NP_001157750.1:p.Leu199Met
NM_001164279.1:c.376C>A NP_001157751.1:p.Leu126Met
NM_001164280.1:c.595C>A NP_001157752.1:p.Leu199Met
NM_001467.5:c.595C>A NP_001458.1:p.Leu199Met
NM_001164278.2:c.595C>A NP_001157750.1:p.Leu199Met
NM_001164279.2:c.376C>A NP_001157751.1:p.Leu126Met
NM_001164280.2:c.595C>A NP_001157752.1:p.Leu199Met
NM_001467.6:c.595C>A NP_001458.1:p.Leu199Met
NM_001164277.2:c.595C>A MANE Select NP_001157749.1:p.Leu199Met