Canonical Allele Identifier: CA382898165
Gene: SLC37A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119026073A>T , CM000673.2:g.119026073A>T GRCh38
NC_000011.9:g.118896783A>T , CM000673.1:g.118896783A>T GRCh37
NC_000011.8:g.118401993A>T NCBI36
NG_013331.1:g.9833T>A , LRG_187:g.9833T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000529510.6:n.1022T>A
ENST00000697845.1:n.1802T>A
ENST00000697846.1:n.1022T>A
ENST00000697847.1:n.1202-316T>A
ENST00000697848.1:n.1108T>A
ENST00000697849.1:n.2917T>A
ENST00000697850.1:n.1108T>A
ENST00000697851.1:n.2716T>A
ENST00000638186.1:n.1182T>A
ENST00000638360.1:n.1014T>A
ENST00000638925.1:n.1147T>A
ENST00000650539.1:n.1284T>A
ENST00000330775.9:c.878T>A ENSP00000476242.2:p.Leu293Gln
ENST00000357590.9:c.878T>A ENSP00000476176.2:p.Leu293Gln
ENST00000524428.5:n.1114T>A
ENST00000525039.5:n.1302T>A
ENST00000525102.5:n.1636T>A
ENST00000525372.5:n.976T>A
ENST00000526275.5:n.1660T>A
ENST00000527992.5:n.1106T>A
ENST00000529510.5:n.566T>A
ENST00000530407.5:n.1028T>A
ENST00000532085.1:n.4259T>A
ENST00000538950.5:c.659T>A ENSP00000475991.2:p.Leu220Gln
ENST00000545985.5:c.878T>A ENSP00000475241.2:p.Leu293Gln
NM_001164277.1:c.878T>A , LRG_187t1:c.878T>A NP_001157749.1:p.Leu293Gln
NM_001164278.1:c.878T>A NP_001157750.1:p.Leu293Gln
NM_001164279.1:c.659T>A NP_001157751.1:p.Leu220Gln
NM_001164280.1:c.878T>A NP_001157752.1:p.Leu293Gln
NM_001467.5:c.878T>A NP_001458.1:p.Leu293Gln
NM_001164278.2:c.878T>A NP_001157750.1:p.Leu293Gln
NM_001164279.2:c.659T>A NP_001157751.1:p.Leu220Gln
NM_001164280.2:c.878T>A NP_001157752.1:p.Leu293Gln
NM_001467.6:c.878T>A NP_001458.1:p.Leu293Gln
NM_001164277.2:c.878T>A MANE Select NP_001157749.1:p.Leu293Gln