Canonical Allele Identifier: CA382904677
Community Standard Title: NM_001164277.2(SLC37A4):c.343G>C (p.Gly115Arg)
Gene: SLC37A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119028232C>G , CM000673.2:g.119028232C>G GRCh38
NC_000011.9:g.118898942C>G , CM000673.1:g.118898942C>G GRCh37
NC_000011.8:g.118404152C>G NCBI36
NG_013331.1:g.7675G>C , LRG_187:g.7675G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001164277.2:c.343G>C MANE Select NP_001157749.1:p.Gly115Arg
NM_001164277.1:c.343G>C , LRG_187t1:c.343G>C NP_001157749.1:p.Gly115Arg
NM_001164278.1:c.343G>C NP_001157750.1:p.Gly115Arg
NM_001164278.2:c.343G>C NP_001157750.1:p.Gly115Arg
NM_001164279.1:c.124G>C NP_001157751.1:p.Gly42Arg
NM_001164279.2:c.124G>C NP_001157751.1:p.Gly42Arg
NM_001164280.1:c.343G>C NP_001157752.1:p.Gly115Arg
NM_001164280.2:c.343G>C NP_001157752.1:p.Gly115Arg
NM_001467.5:c.343G>C NP_001458.1:p.Gly115Arg
NM_001467.6:c.343G>C NP_001458.1:p.Gly115Arg
ENST00000330775.9:c.343G>C ENSP00000476242.2:p.Gly115Arg
ENST00000357590.9:c.343G>C ENSP00000476176.2:p.Gly115Arg
ENST00000524428.5:n.343G>C
ENST00000525039.5:n.766G>C
ENST00000525102.5:n.1100G>C
ENST00000525372.5:n.343G>C
ENST00000525787.1:n.638G>C
ENST00000526275.5:n.803G>C
ENST00000526626.6:n.344-360G>C
ENST00000527992.5:n.570G>C
ENST00000529510.5:n.361G>C
ENST00000529510.6:n.572G>C
ENST00000530407.5:n.492G>C
ENST00000532085.1:n.2632G>C
ENST00000532888.6:n.638G>C
ENST00000538950.5:c.124G>C ENSP00000475991.2:p.Gly42Arg
ENST00000545985.5:c.343G>C ENSP00000475241.2:p.Gly115Arg
ENST00000638186.1:n.646G>C
ENST00000638360.1:n.580G>C
ENST00000638925.1:n.579G>C
ENST00000650539.1:n.748G>C
ENST00000697845.1:n.496G>C
ENST00000697846.1:n.572G>C
ENST00000697847.1:n.572G>C
ENST00000697848.1:n.572G>C
ENST00000697849.1:n.1611G>C
ENST00000697850.1:n.572G>C
ENST00000697851.1:n.1611G>C