Canonical Allele Identifier: CA382900260
Gene: SLC37A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 557457
ClinVar RCV Id: RCV000673600
dbSNP Id: rs1350014866

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119026646C>G , CM000673.2:g.119026646C>G GRCh38
NC_000011.9:g.118897356C>G , CM000673.1:g.118897356C>G GRCh37
NC_000011.8:g.118402566C>G NCBI36
NG_013331.1:g.9260G>C , LRG_187:g.9260G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000529510.6:n.1014+291G>C
ENST00000697845.1:n.1229G>C
ENST00000697846.1:n.1014+291G>C
ENST00000697847.1:n.1057G>C
ENST00000697848.1:n.1057G>C
ENST00000697849.1:n.2344G>C
ENST00000697850.1:n.1057G>C
ENST00000697851.1:n.2665G>C
ENST00000638186.1:n.1131G>C
ENST00000638360.1:n.963G>C
ENST00000638925.1:n.1064G>C
ENST00000650539.1:n.1233G>C
ENST00000330775.9:c.827G>C ENSP00000476242.2:p.Gly276Ala
ENST00000357590.9:c.827G>C ENSP00000476176.2:p.Gly276Ala
ENST00000524428.5:n.1106+291G>C
ENST00000525039.5:n.1251G>C
ENST00000525102.5:n.1585G>C
ENST00000525372.5:n.828G>C
ENST00000526275.5:n.1609G>C
ENST00000527992.5:n.1055G>C
ENST00000529510.5:n.558+291G>C
ENST00000530407.5:n.977G>C
ENST00000532085.1:n.3686G>C
ENST00000538950.5:c.608G>C ENSP00000475991.2:p.Gly203Ala
ENST00000545985.5:c.827G>C ENSP00000475241.2:p.Gly276Ala
NM_001164277.1:c.827G>C , LRG_187t1:c.827G>C NP_001157749.1:p.Gly276Ala
NM_001164278.1:c.827G>C NP_001157750.1:p.Gly276Ala
NM_001164279.1:c.608G>C NP_001157751.1:p.Gly203Ala
NM_001164280.1:c.827G>C NP_001157752.1:p.Gly276Ala
NM_001467.5:c.827G>C NP_001458.1:p.Gly276Ala
NM_001164278.2:c.827G>C NP_001157750.1:p.Gly276Ala
NM_001164279.2:c.608G>C NP_001157751.1:p.Gly203Ala
NM_001164280.2:c.827G>C NP_001157752.1:p.Gly276Ala
NM_001467.6:c.827G>C NP_001458.1:p.Gly276Ala
NM_001164277.2:c.827G>C MANE Select NP_001157749.1:p.Gly276Ala