Canonical Allele Identifier: CA219278
Gene: SLC37A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 21298
dbSNP Id: rs80356492

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119025215C>T , CM000673.2:g.119025215C>T GRCh38
NC_000011.9:g.118895925C>T , CM000673.1:g.118895925C>T GRCh37
NC_000011.8:g.118401135C>T NCBI36
NG_013331.1:g.10691G>A , LRG_187:g.10691G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000638186.1:n.1403G>A
ENST00000638360.1:n.1235G>A
ENST00000638925.1:n.1368G>A
ENST00000650539.1:n.1571G>A
ENST00000330775.9:c.1099G>A ENSP00000476242.2:p.Ala367Thr
ENST00000357590.9:c.1165G>A ENSP00000476176.2:p.Ala389Thr
ENST00000524428.5:n.1335G>A
ENST00000525039.5:n.1589G>A
ENST00000525102.5:n.1857G>A
ENST00000525372.5:n.1197G>A
ENST00000526275.5:n.1881G>A
ENST00000527992.5:n.1327G>A
ENST00000529510.5:n.787G>A
ENST00000530407.5:n.1249G>A
ENST00000532085.1:n.5117G>A
ENST00000533058.5:c.*166C>T ENSP00000432920.1:p.=
ENST00000538950.5:c.880G>A ENSP00000475991.2:p.Ala294Thr
ENST00000545985.5:c.1099G>A ENSP00000475241.2:p.Ala367Thr
NM_001164277.1:c.1099G>A , LRG_187t1:c.1099G>A NP_001157749.1:p.Ala367Thr
NM_001164278.1:c.1165G>A NP_001157750.1:p.Ala389Thr
NM_001164279.1:c.880G>A NP_001157751.1:p.Ala294Thr
NM_001164280.1:c.1099G>A NP_001157752.1:p.Ala367Thr
NM_001467.5:c.1099G>A NP_001458.1:p.Ala367Thr
NM_001164278.2:c.1165G>A NP_001157750.1:p.Ala389Thr
NM_001164279.2:c.880G>A NP_001157751.1:p.Ala294Thr
NM_001164280.2:c.1099G>A NP_001157752.1:p.Ala367Thr
NM_001467.6:c.1099G>A NP_001458.1:p.Ala367Thr
NM_001164277.2:c.1099G>A NP_001157749.1:p.Ala367Thr