Canonical Allele Identifier: CA382900342
Gene: SLC37A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119026655C>A , CM000673.2:g.119026655C>A GRCh38
NC_000011.9:g.118897365C>A , CM000673.1:g.118897365C>A GRCh37
NC_000011.8:g.118402575C>A NCBI36
NG_013331.1:g.9251G>T , LRG_187:g.9251G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000529510.6:n.1014+282G>T
ENST00000697845.1:n.1220G>T
ENST00000697846.1:n.1014+282G>T
ENST00000697847.1:n.1048G>T
ENST00000697848.1:n.1048G>T
ENST00000697849.1:n.2335G>T
ENST00000697850.1:n.1048G>T
ENST00000697851.1:n.2656G>T
ENST00000638186.1:n.1122G>T
ENST00000638360.1:n.954G>T
ENST00000638925.1:n.1055G>T
ENST00000650539.1:n.1224G>T
ENST00000330775.9:c.818G>T ENSP00000476242.2:p.Gly273Val
ENST00000357590.9:c.818G>T ENSP00000476176.2:p.Gly273Val
ENST00000524428.5:n.1106+282G>T
ENST00000525039.5:n.1242G>T
ENST00000525102.5:n.1576G>T
ENST00000525372.5:n.819G>T
ENST00000526275.5:n.1600G>T
ENST00000527992.5:n.1046G>T
ENST00000529510.5:n.558+282G>T
ENST00000530407.5:n.968G>T
ENST00000532085.1:n.3677G>T
ENST00000538950.5:c.599G>T ENSP00000475991.2:p.Gly200Val
ENST00000545985.5:c.818G>T ENSP00000475241.2:p.Gly273Val
NM_001164277.1:c.818G>T , LRG_187t1:c.818G>T NP_001157749.1:p.Gly273Val
NM_001164278.1:c.818G>T NP_001157750.1:p.Gly273Val
NM_001164279.1:c.599G>T NP_001157751.1:p.Gly200Val
NM_001164280.1:c.818G>T NP_001157752.1:p.Gly273Val
NM_001467.5:c.818G>T NP_001458.1:p.Gly273Val
NM_001164278.2:c.818G>T NP_001157750.1:p.Gly273Val
NM_001164279.2:c.599G>T NP_001157751.1:p.Gly200Val
NM_001164280.2:c.818G>T NP_001157752.1:p.Gly273Val
NM_001467.6:c.818G>T NP_001458.1:p.Gly273Val
NM_001164277.2:c.818G>T MANE Select NP_001157749.1:p.Gly273Val