Canonical Allele Identifier: CA323754
Gene: SLC37A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 215178
dbSNP Id: rs186476316

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119027757C>T , CM000673.2:g.119027757C>T GRCh38
NC_000011.9:g.118898467C>T , CM000673.1:g.118898467C>T GRCh37
NC_000011.8:g.118403677C>T NCBI36
NG_013331.1:g.8150G>A , LRG_187:g.8150G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000529510.6:n.726G>A
ENST00000697845.1:n.650G>A
ENST00000697846.1:n.726G>A
ENST00000697847.1:n.726G>A
ENST00000697848.1:n.726G>A
ENST00000697849.1:n.1765G>A
ENST00000697850.1:n.726G>A
ENST00000697851.1:n.2086G>A
ENST00000638186.1:n.800G>A
ENST00000638360.1:n.632G>A
ENST00000638925.1:n.733G>A
ENST00000650539.1:n.902G>A
ENST00000330775.9:c.497G>A ENSP00000476242.2:p.Arg166His
ENST00000357590.9:c.497G>A ENSP00000476176.2:p.Arg166His
ENST00000524428.5:n.818G>A
ENST00000525039.5:n.920G>A
ENST00000525102.5:n.1254G>A
ENST00000525372.5:n.497G>A
ENST00000526275.5:n.1278G>A
ENST00000526626.6:n.459G>A
ENST00000527992.5:n.724G>A
ENST00000529510.5:n.399+437G>A
ENST00000530407.5:n.646G>A
ENST00000532085.1:n.3107G>A
ENST00000532888.6:n.792G>A
ENST00000538950.5:c.278G>A ENSP00000475991.2:p.Arg93His
ENST00000545985.5:c.497G>A ENSP00000475241.2:p.Arg166His
NM_001164277.1:c.497G>A , LRG_187t1:c.497G>A NP_001157749.1:p.Arg166His
NM_001164278.1:c.497G>A NP_001157750.1:p.Arg166His
NM_001164279.1:c.278G>A NP_001157751.1:p.Arg93His
NM_001164280.1:c.497G>A NP_001157752.1:p.Arg166His
NM_001467.5:c.497G>A NP_001458.1:p.Arg166His
NM_001164278.2:c.497G>A NP_001157750.1:p.Arg166His
NM_001164279.2:c.278G>A NP_001157751.1:p.Arg93His
NM_001164280.2:c.497G>A NP_001157752.1:p.Arg166His
NM_001467.6:c.497G>A NP_001458.1:p.Arg166His
NM_001164277.2:c.497G>A MANE Select NP_001157749.1:p.Arg166His