Canonical Allele Identifier: CA477367425
Gene: SLC37A4 HGNC NCBI
TRAPPC4 HGNC NCBI

Linked Data

ClinVar Variation Id: 558439
ClinVar RCV Id: RCV000674706
dbSNP Id: rs782726848

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119025306A>G , CM000673.2:g.119025306A>G GRCh38
NC_000011.9:g.118896016A>G , CM000673.1:g.118896016A>G GRCh37
NC_000011.8:g.118401226A>G NCBI36
NG_013331.1:g.10600T>C , LRG_187:g.10600T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000529510.6:n.1218T>C (SLC37A4)
ENST00000697845.1:n.2207T>C (SLC37A4)
ENST00000697846.1:n.1580T>C (SLC37A4)
ENST00000697847.1:n.1291T>C (SLC37A4)
ENST00000697849.1:n.3684T>C (SLC37A4)
ENST00000697850.1:n.1875T>C (SLC37A4)
ENST00000697851.1:n.2846T>C (SLC37A4)
ENST00000638186.1:n.1312T>C (SLC37A4)
ENST00000638360.1:n.1144T>C (SLC37A4)
ENST00000638925.1:n.1277T>C (SLC37A4)
ENST00000650539.1:n.1480T>C (SLC37A4)
ENST00000330775.9:c.1008T>C (SLC37A4) ENSP00000476242.2:p.Ala336=
ENST00000357590.9:c.1074T>C (SLC37A4) ENSP00000476176.2:p.Ala358=
ENST00000524428.5:n.1244T>C (SLC37A4)
ENST00000525039.5:n.1498T>C (SLC37A4)
ENST00000525102.5:n.1766T>C (SLC37A4)
ENST00000525372.5:n.1106T>C (SLC37A4)
ENST00000526275.5:n.1790T>C (SLC37A4)
ENST00000527992.5:n.1236T>C (SLC37A4)
ENST00000529510.5:n.696T>C (SLC37A4)
ENST00000530407.5:n.1158T>C (SLC37A4)
ENST00000532085.1:n.5026T>C (SLC37A4)
ENST00000533058.5:c.*257A>G (TRAPPC4) ENSP00000432920.1:n.*257A>G
ENST00000538950.5:c.789T>C (SLC37A4) ENSP00000475991.2:p.Ala263=
ENST00000545985.5:c.1008T>C (SLC37A4) ENSP00000475241.2:p.Ala336=
NM_001164277.1:c.1008T>C , LRG_187t1:c.1008T>C (SLC37A4) NP_001157749.1:p.Ala336=
NM_001164278.1:c.1074T>C (SLC37A4) NP_001157750.1:p.Ala358=
NM_001164279.1:c.789T>C (SLC37A4) NP_001157751.1:p.Ala263=
NM_001164280.1:c.1008T>C (SLC37A4) NP_001157752.1:p.Ala336=
NM_001467.5:c.1008T>C (SLC37A4) NP_001458.1:p.Ala336=
NM_001164278.2:c.1074T>C (SLC37A4) NP_001157750.1:p.Ala358=
NM_001164279.2:c.789T>C (SLC37A4) NP_001157751.1:p.Ala263=
NM_001164280.2:c.1008T>C (SLC37A4) NP_001157752.1:p.Ala336=
NM_001467.6:c.1008T>C (SLC37A4) NP_001458.1:p.Ala336=
NM_001164277.2:c.1008T>C (SLC37A4) MANE Select NP_001157749.1:p.Ala336=