Canonical Allele Identifier: CA382905655
Community Standard Title: NM_001164277.2(SLC37A4):c.248G>A (p.Gly83Glu)
Gene: SLC37A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119028327C>T , CM000673.2:g.119028327C>T GRCh38
NC_000011.9:g.118899037C>T , CM000673.1:g.118899037C>T GRCh37
NC_000011.8:g.118404247C>T NCBI36
NG_013331.1:g.7580G>A , LRG_187:g.7580G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001164277.2:c.248G>A MANE Select NP_001157749.1:p.Gly83Glu
NM_001164277.1:c.248G>A , LRG_187t1:c.248G>A NP_001157749.1:p.Gly83Glu
NM_001164278.1:c.248G>A NP_001157750.1:p.Gly83Glu
NM_001164278.2:c.248G>A NP_001157750.1:p.Gly83Glu
NM_001164279.1:c.29G>A NP_001157751.1:p.Gly10Glu
NM_001164279.2:c.29G>A NP_001157751.1:p.Gly10Glu
NM_001164280.1:c.248G>A NP_001157752.1:p.Gly83Glu
NM_001164280.2:c.248G>A NP_001157752.1:p.Gly83Glu
NM_001467.5:c.248G>A NP_001458.1:p.Gly83Glu
NM_001467.6:c.248G>A NP_001458.1:p.Gly83Glu
ENST00000330775.9:c.248G>A ENSP00000476242.2:p.Gly83Glu
ENST00000357590.9:c.248G>A ENSP00000476176.2:p.Gly83Glu
ENST00000524428.5:n.248G>A
ENST00000525039.5:n.671G>A
ENST00000525102.5:n.1005G>A
ENST00000525372.5:n.248G>A
ENST00000525787.1:n.543G>A
ENST00000526275.5:n.708G>A
ENST00000526626.6:n.344-455G>A
ENST00000527992.5:n.475G>A
ENST00000529510.5:n.266G>A
ENST00000529510.6:n.477G>A
ENST00000530407.5:n.397G>A
ENST00000532085.1:n.2537G>A
ENST00000532888.6:n.543G>A
ENST00000534384.1:n.468G>A
ENST00000538950.5:c.29G>A ENSP00000475991.2:p.Gly10Glu
ENST00000545985.5:c.248G>A ENSP00000475241.2:p.Gly83Glu
ENST00000638186.1:n.551G>A
ENST00000638360.1:n.485G>A
ENST00000638925.1:n.484G>A
ENST00000650539.1:n.653G>A
ENST00000697845.1:n.401G>A
ENST00000697846.1:n.477G>A
ENST00000697847.1:n.477G>A
ENST00000697848.1:n.477G>A
ENST00000697849.1:n.1516G>A
ENST00000697850.1:n.477G>A
ENST00000697851.1:n.1516G>A