Canonical Allele Identifier: CA382900273
Gene: SLC37A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119026647C>A , CM000673.2:g.119026647C>A GRCh38
NC_000011.9:g.118897357C>A , CM000673.1:g.118897357C>A GRCh37
NC_000011.8:g.118402567C>A NCBI36
NG_013331.1:g.9259G>T , LRG_187:g.9259G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000529510.6:n.1014+290G>T
ENST00000697845.1:n.1228G>T
ENST00000697846.1:n.1014+290G>T
ENST00000697847.1:n.1056G>T
ENST00000697848.1:n.1056G>T
ENST00000697849.1:n.2343G>T
ENST00000697850.1:n.1056G>T
ENST00000697851.1:n.2664G>T
ENST00000638186.1:n.1130G>T
ENST00000638360.1:n.962G>T
ENST00000638925.1:n.1063G>T
ENST00000650539.1:n.1232G>T
ENST00000330775.9:c.826G>T ENSP00000476242.2:p.Gly276Cys
ENST00000357590.9:c.826G>T ENSP00000476176.2:p.Gly276Cys
ENST00000524428.5:n.1106+290G>T
ENST00000525039.5:n.1250G>T
ENST00000525102.5:n.1584G>T
ENST00000525372.5:n.827G>T
ENST00000526275.5:n.1608G>T
ENST00000527992.5:n.1054G>T
ENST00000529510.5:n.558+290G>T
ENST00000530407.5:n.976G>T
ENST00000532085.1:n.3685G>T
ENST00000538950.5:c.607G>T ENSP00000475991.2:p.Gly203Cys
ENST00000545985.5:c.826G>T ENSP00000475241.2:p.Gly276Cys
NM_001164277.1:c.826G>T , LRG_187t1:c.826G>T NP_001157749.1:p.Gly276Cys
NM_001164278.1:c.826G>T NP_001157750.1:p.Gly276Cys
NM_001164279.1:c.607G>T NP_001157751.1:p.Gly203Cys
NM_001164280.1:c.826G>T NP_001157752.1:p.Gly276Cys
NM_001467.5:c.826G>T NP_001458.1:p.Gly276Cys
NM_001164278.2:c.826G>T NP_001157750.1:p.Gly276Cys
NM_001164279.2:c.607G>T NP_001157751.1:p.Gly203Cys
NM_001164280.2:c.826G>T NP_001157752.1:p.Gly276Cys
NM_001467.6:c.826G>T NP_001458.1:p.Gly276Cys
NM_001164277.2:c.826G>T MANE Select NP_001157749.1:p.Gly276Cys