Canonical Allele Identifier: CA6311643
Gene: SLC37A4 HGNC NCBI
TRAPPC4 HGNC NCBI

Linked Data

ClinVar Variation Id: 551256
ClinVar RCV Id: RCV000666264
dbSNP Id: rs782282206

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119025325C>G , CM000673.2:g.119025325C>G GRCh38
NC_000011.9:g.118896035C>G , CM000673.1:g.118896035C>G GRCh37
NC_000011.8:g.118401245C>G NCBI36
NG_013331.1:g.10581G>C , LRG_187:g.10581G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000529510.6:n.1199G>C (SLC37A4)
ENST00000697845.1:n.2188G>C (SLC37A4)
ENST00000697846.1:n.1561G>C (SLC37A4)
ENST00000697847.1:n.1272G>C (SLC37A4)
ENST00000697849.1:n.3665G>C (SLC37A4)
ENST00000697850.1:n.1856G>C (SLC37A4)
ENST00000697851.1:n.2827G>C (SLC37A4)
ENST00000638186.1:n.1293G>C (SLC37A4)
ENST00000638360.1:n.1125G>C (SLC37A4)
ENST00000638925.1:n.1258G>C (SLC37A4)
ENST00000650539.1:n.1461G>C (SLC37A4)
ENST00000330775.9:c.989G>C (SLC37A4) ENSP00000476242.2:p.Trp330Ser
ENST00000357590.9:c.1055G>C (SLC37A4) ENSP00000476176.2:p.Trp352Ser
ENST00000524428.5:n.1225G>C (SLC37A4)
ENST00000525039.5:n.1479G>C (SLC37A4)
ENST00000525102.5:n.1747G>C (SLC37A4)
ENST00000525372.5:n.1087G>C (SLC37A4)
ENST00000526275.5:n.1771G>C (SLC37A4)
ENST00000527992.5:n.1217G>C (SLC37A4)
ENST00000529510.5:n.677G>C (SLC37A4)
ENST00000530407.5:n.1139G>C (SLC37A4)
ENST00000532085.1:n.5007G>C (SLC37A4)
ENST00000533058.5:c.*276C>G (TRAPPC4) ENSP00000432920.1:n.*276C>G
ENST00000538950.5:c.770G>C (SLC37A4) ENSP00000475991.2:p.Trp257Ser
ENST00000545985.5:c.989G>C (SLC37A4) ENSP00000475241.2:p.Trp330Ser
NM_001164277.1:c.989G>C , LRG_187t1:c.989G>C (SLC37A4) NP_001157749.1:p.Trp330Ser
NM_001164278.1:c.1055G>C (SLC37A4) NP_001157750.1:p.Trp352Ser
NM_001164279.1:c.770G>C (SLC37A4) NP_001157751.1:p.Trp257Ser
NM_001164280.1:c.989G>C (SLC37A4) NP_001157752.1:p.Trp330Ser
NM_001467.5:c.989G>C (SLC37A4) NP_001458.1:p.Trp330Ser
NM_001164278.2:c.1055G>C (SLC37A4) NP_001157750.1:p.Trp352Ser
NM_001164279.2:c.770G>C (SLC37A4) NP_001157751.1:p.Trp257Ser
NM_001164280.2:c.989G>C (SLC37A4) NP_001157752.1:p.Trp330Ser
NM_001467.6:c.989G>C (SLC37A4) NP_001458.1:p.Trp330Ser
NM_001164277.2:c.989G>C (SLC37A4) MANE Select NP_001157749.1:p.Trp330Ser