Canonical Allele Identifier: CA321467
Community Standard Title: NM_001164277.2(SLC37A4):c.1168C>T (p.His390Tyr)
Gene: SLC37A4 HGNC NCBI
TRAPPC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119025032G>A , CM000673.2:g.119025032G>A GRCh38
NC_000011.9:g.118895742G>A , CM000673.1:g.118895742G>A GRCh37
NC_000011.8:g.118400952G>A NCBI36
NG_013331.1:g.10874C>T , LRG_187:g.10874C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001164277.2:c.1168C>T (SLC37A4) MANE Select NP_001157749.1:p.His390Tyr
NM_001164277.1:c.1168C>T , LRG_187t1:c.1168C>T (SLC37A4) NP_001157749.1:p.His390Tyr
NM_001164278.1:c.1234C>T (SLC37A4) NP_001157750.1:p.His412Tyr
NM_001164278.2:c.1234C>T (SLC37A4) NP_001157750.1:p.His412Tyr
NM_001164279.1:c.949C>T (SLC37A4) NP_001157751.1:p.His317Tyr
NM_001164279.2:c.949C>T (SLC37A4) NP_001157751.1:p.His317Tyr
NM_001164280.1:c.1168C>T (SLC37A4) NP_001157752.1:p.His390Tyr
NM_001164280.2:c.1168C>T (SLC37A4) NP_001157752.1:p.His390Tyr
NM_001467.5:c.1168C>T (SLC37A4) NP_001458.1:p.His390Tyr
NM_001467.6:c.1168C>T (SLC37A4) NP_001458.1:p.His390Tyr
ENST00000330775.9:c.1168C>T (SLC37A4) ENSP00000476242.2:p.His390Tyr
ENST00000357590.9:c.1234C>T (SLC37A4) ENSP00000476176.2:p.His412Tyr
ENST00000524428.5:n.1404C>T (SLC37A4)
ENST00000525039.5:n.1658C>T (SLC37A4)
ENST00000525102.5:n.1926C>T (SLC37A4)
ENST00000525372.5:n.1266C>T (SLC37A4)
ENST00000526275.5:n.1950C>T (SLC37A4)
ENST00000527992.5:n.1396C>T (SLC37A4)
ENST00000529510.6:n.1378C>T (SLC37A4)
ENST00000530407.5:n.1318C>T (SLC37A4)
ENST00000532085.1:n.5186C>T (SLC37A4)
ENST00000533058.5:c.757G>A (TRAPPC4) ENSP00000432920.1:p.Ala253Thr
ENST00000538950.5:c.949C>T (SLC37A4) ENSP00000475991.2:p.His317Tyr
ENST00000545985.5:c.1168C>T (SLC37A4) ENSP00000475241.2:p.His390Tyr
ENST00000638186.1:n.1472C>T (SLC37A4)
ENST00000638360.1:n.1304C>T (SLC37A4)
ENST00000638925.1:n.1437C>T (SLC37A4)
ENST00000650539.1:n.1640C>T (SLC37A4)
ENST00000697845.1:n.2367C>T (SLC37A4)
ENST00000697846.1:n.1740C>T (SLC37A4)
ENST00000697847.1:n.1451C>T (SLC37A4)
ENST00000697849.1:n.3844C>T (SLC37A4)
ENST00000697850.1:n.2035C>T (SLC37A4)
ENST00000697851.1:n.3006C>T (SLC37A4)