Canonical Allele Identifier: CA229595829
Community Standard Title: NM_001164277.2(SLC37A4):c.1175G>A (p.Ser392Asn)
Gene: SLC37A4 HGNC NCBI
TRAPPC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119025025C>T , CM000673.2:g.119025025C>T GRCh38
NC_000011.9:g.118895735C>T , CM000673.1:g.118895735C>T GRCh37
NC_000011.8:g.118400945C>T NCBI36
NG_013331.1:g.10881G>A , LRG_187:g.10881G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001164277.2:c.1175G>A (SLC37A4) MANE Select NP_001157749.1:p.Ser392Asn
NM_001164277.1:c.1175G>A , LRG_187t1:c.1175G>A (SLC37A4) NP_001157749.1:p.Ser392Asn
NM_001164278.1:c.1241G>A (SLC37A4) NP_001157750.1:p.Ser414Asn
NM_001164278.2:c.1241G>A (SLC37A4) NP_001157750.1:p.Ser414Asn
NM_001164279.1:c.956G>A (SLC37A4) NP_001157751.1:p.Ser319Asn
NM_001164279.2:c.956G>A (SLC37A4) NP_001157751.1:p.Ser319Asn
NM_001164280.1:c.1175G>A (SLC37A4) NP_001157752.1:p.Ser392Asn
NM_001164280.2:c.1175G>A (SLC37A4) NP_001157752.1:p.Ser392Asn
NM_001467.5:c.1175G>A (SLC37A4) NP_001458.1:p.Ser392Asn
NM_001467.6:c.1175G>A (SLC37A4) NP_001458.1:p.Ser392Asn
ENST00000330775.9:c.1175G>A (SLC37A4) ENSP00000476242.2:p.Ser392Asn
ENST00000357590.9:c.1241G>A (SLC37A4) ENSP00000476176.2:p.Ser414Asn
ENST00000524428.5:n.1411G>A (SLC37A4)
ENST00000525039.5:n.1665G>A (SLC37A4)
ENST00000525102.5:n.1933G>A (SLC37A4)
ENST00000525372.5:n.1273G>A (SLC37A4)
ENST00000526275.5:n.1957G>A (SLC37A4)
ENST00000527992.5:n.1403G>A (SLC37A4)
ENST00000529510.6:n.1385G>A (SLC37A4)
ENST00000530407.5:n.1325G>A (SLC37A4)
ENST00000532085.1:n.5193G>A (SLC37A4)
ENST00000533058.5:c.750C>T (TRAPPC4) ENSP00000432920.1:p.Asn250=
ENST00000538950.5:c.956G>A (SLC37A4) ENSP00000475991.2:p.Ser319Asn
ENST00000545985.5:c.1175G>A (SLC37A4) ENSP00000475241.2:p.Ser392Asn
ENST00000638186.1:n.1479G>A (SLC37A4)
ENST00000638360.1:n.1311G>A (SLC37A4)
ENST00000638925.1:n.1444G>A (SLC37A4)
ENST00000650539.1:n.1647G>A (SLC37A4)
ENST00000697845.1:n.2374G>A (SLC37A4)
ENST00000697846.1:n.1747G>A (SLC37A4)
ENST00000697847.1:n.1458G>A (SLC37A4)
ENST00000697849.1:n.3851G>A (SLC37A4)
ENST00000697850.1:n.2042G>A (SLC37A4)
ENST00000697851.1:n.3013G>A (SLC37A4)