Canonical Allele Identifier: CA118561
Gene: SLC37A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 6928
dbSNP Id: rs121908976

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119028288C>T , CM000673.2:g.119028288C>T GRCh38
NC_000011.9:g.118898998C>T , CM000673.1:g.118898998C>T GRCh37
NC_000011.8:g.118404208C>T NCBI36
NG_013331.1:g.7619G>A , LRG_187:g.7619G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000529510.6:n.516G>A
ENST00000697845.1:n.440G>A
ENST00000697846.1:n.516G>A
ENST00000697847.1:n.516G>A
ENST00000697848.1:n.516G>A
ENST00000697849.1:n.1555G>A
ENST00000697850.1:n.516G>A
ENST00000697851.1:n.1555G>A
ENST00000638186.1:n.590G>A
ENST00000638360.1:n.524G>A
ENST00000638925.1:n.523G>A
ENST00000650539.1:n.692G>A
ENST00000330775.9:c.287G>A ENSP00000476242.2:p.Trp96Ter
ENST00000357590.9:c.287G>A ENSP00000476176.2:p.Trp96Ter
ENST00000524428.5:n.287G>A
ENST00000525039.5:n.710G>A
ENST00000525102.5:n.1044G>A
ENST00000525372.5:n.287G>A
ENST00000525787.1:n.582G>A
ENST00000526275.5:n.747G>A
ENST00000526626.6:n.344-416G>A
ENST00000527992.5:n.514G>A
ENST00000529510.5:n.305G>A
ENST00000530407.5:n.436G>A
ENST00000532085.1:n.2576G>A
ENST00000532888.6:n.582G>A
ENST00000534384.1:n.507G>A
ENST00000538950.5:c.68G>A ENSP00000475991.2:p.Trp23Ter
ENST00000545985.5:c.287G>A ENSP00000475241.2:p.Trp96Ter
NM_001164277.1:c.287G>A , LRG_187t1:c.287G>A NP_001157749.1:p.Trp96Ter
NM_001164278.1:c.287G>A NP_001157750.1:p.Trp96Ter
NM_001164279.1:c.68G>A NP_001157751.1:p.Trp23Ter
NM_001164280.1:c.287G>A NP_001157752.1:p.Trp96Ter
NM_001467.5:c.287G>A NP_001458.1:p.Trp96Ter
NM_001164278.2:c.287G>A NP_001157750.1:p.Trp96Ter
NM_001164279.2:c.68G>A NP_001157751.1:p.Trp23Ter
NM_001164280.2:c.287G>A NP_001157752.1:p.Trp96Ter
NM_001467.6:c.287G>A NP_001458.1:p.Trp96Ter
NM_001164277.2:c.287G>A MANE Select NP_001157749.1:p.Trp96Ter