Canonical Allele Identifier: CA2003748396
Community Standard Title: NM_001164277.2(SLC37A4):c.1099G= (p.Ala367=)
Gene: SLC37A4 HGNC NCBI
TRAPPC4 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_001164277.2:c.1099G= (SLC37A4) MANE Select NP_001157749.1:p.Ala367=
NM_001164277.1:c.1099G= , LRG_187t1:c.1099G= (SLC37A4) NP_001157749.1:p.Ala367=
NM_001164278.1:c.1165G= (SLC37A4) NP_001157750.1:p.Ala389=
NM_001164278.2:c.1165G= (SLC37A4) NP_001157750.1:p.Ala389=
NM_001164279.1:c.880G= (SLC37A4) NP_001157751.1:p.Ala294=
NM_001164279.2:c.880G= (SLC37A4) NP_001157751.1:p.Ala294=
NM_001164280.1:c.1099G= (SLC37A4) NP_001157752.1:p.Ala367=
NM_001164280.2:c.1099G= (SLC37A4) NP_001157752.1:p.Ala367=
NM_001467.5:c.1099G= (SLC37A4) NP_001458.1:p.Ala367=
NM_001467.6:c.1099G= (SLC37A4) NP_001458.1:p.Ala367=
ENST00000330775.9:c.1099G= (SLC37A4) ENSP00000476242.2:p.Ala367=
ENST00000357590.9:c.1165G= (SLC37A4) ENSP00000476176.2:p.Ala389=
ENST00000524428.5:n.1335G= (SLC37A4)
ENST00000525039.5:n.1589G= (SLC37A4)
ENST00000525102.5:n.1857G= (SLC37A4)
ENST00000525372.5:n.1197G= (SLC37A4)
ENST00000526275.5:n.1881G= (SLC37A4)
ENST00000527992.5:n.1327G= (SLC37A4)
ENST00000529510.5:n.787G= (SLC37A4)
ENST00000529510.6:n.1309G= (SLC37A4)
ENST00000530407.5:n.1249G= (SLC37A4)
ENST00000532085.1:n.5117G= (SLC37A4)
ENST00000533058.5:c.*166C= (TRAPPC4) ENSP00000432920.1:n.*166C=
ENST00000538950.5:c.880G= (SLC37A4) ENSP00000475991.2:p.Ala294=
ENST00000545985.5:c.1099G= (SLC37A4) ENSP00000475241.2:p.Ala367=
ENST00000638186.1:n.1403G= (SLC37A4)
ENST00000638360.1:n.1235G= (SLC37A4)
ENST00000638925.1:n.1368G= (SLC37A4)
ENST00000650539.1:n.1571G= (SLC37A4)
ENST00000697845.1:n.2298G= (SLC37A4)
ENST00000697846.1:n.1671G= (SLC37A4)
ENST00000697847.1:n.1382G= (SLC37A4)
ENST00000697849.1:n.3775G= (SLC37A4)
ENST00000697850.1:n.1966G= (SLC37A4)
ENST00000697851.1:n.2937G= (SLC37A4)