Canonical Allele Identifier: CA2003748848
Gene: SLC37A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119026036C= , CM000673.2:g.119026036C= GRCh38
NC_000011.9:g.118896746C= , CM000673.1:g.118896746C= GRCh37
NC_000011.8:g.118401956C= NCBI36
NG_013331.1:g.9870G= , LRG_187:g.9870G=

Transcript Alleles

HGVS Amino-acid change
ENST00000529510.6:n.1059G=
ENST00000697845.1:n.1839G=
ENST00000697846.1:n.1059G=
ENST00000697847.1:n.1202-279G=
ENST00000697848.1:n.1145G=
ENST00000697849.1:n.2954G=
ENST00000697850.1:n.1145G=
ENST00000697851.1:n.2753G=
ENST00000638186.1:n.1219G=
ENST00000638360.1:n.1051G=
ENST00000638925.1:n.1184G=
ENST00000650539.1:n.1321G=
ENST00000330775.9:c.915G= ENSP00000476242.2:p.Leu305=
ENST00000357590.9:c.915G= ENSP00000476176.2:p.Leu305=
ENST00000524428.5:n.1151G=
ENST00000525039.5:n.1339G=
ENST00000525102.5:n.1673G=
ENST00000525372.5:n.1013G=
ENST00000526275.5:n.1697G=
ENST00000527992.5:n.1143G=
ENST00000529510.5:n.603G=
ENST00000530407.5:n.1065G=
ENST00000532085.1:n.4296G=
ENST00000538950.5:c.696G= ENSP00000475991.2:p.Leu232=
ENST00000545985.5:c.915G= ENSP00000475241.2:p.Leu305=
NM_001164277.1:c.915G= , LRG_187t1:c.915G= NP_001157749.1:p.Leu305=
NM_001164278.1:c.915G= NP_001157750.1:p.Leu305=
NM_001164279.1:c.696G= NP_001157751.1:p.Leu232=
NM_001164280.1:c.915G= NP_001157752.1:p.Leu305=
NM_001467.5:c.915G= NP_001458.1:p.Leu305=
NM_001164278.2:c.915G= NP_001157750.1:p.Leu305=
NM_001164279.2:c.696G= NP_001157751.1:p.Leu232=
NM_001164280.2:c.915G= NP_001157752.1:p.Leu305=
NM_001467.6:c.915G= NP_001458.1:p.Leu305=
NM_001164277.2:c.915G= MANE Select NP_001157749.1:p.Leu305=