Canonical Allele Identifier: CA219297
Community Standard Title: NM_001164277.2(SLC37A4):c.163A>C (p.Ser55Arg)
Gene: SLC37A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119028412T>G , CM000673.2:g.119028412T>G GRCh38
NC_000011.9:g.118899122T>G , CM000673.1:g.118899122T>G GRCh37
NC_000011.8:g.118404332T>G NCBI36
NG_013331.1:g.7495A>C , LRG_187:g.7495A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001164277.2:c.163A>C MANE Select NP_001157749.1:p.Ser55Arg
NM_001164277.1:c.163A>C , LRG_187t1:c.163A>C NP_001157749.1:p.Ser55Arg
NM_001164278.1:c.163A>C NP_001157750.1:p.Ser55Arg
NM_001164278.2:c.163A>C NP_001157750.1:p.Ser55Arg
NM_001164279.1:c.-57A>C NP_001157751.1:n.-57A>C
NM_001164279.2:c.-57A>C NP_001157751.1:n.-57A>C
NM_001164280.1:c.163A>C NP_001157752.1:p.Ser55Arg
NM_001164280.2:c.163A>C NP_001157752.1:p.Ser55Arg
NM_001467.5:c.163A>C NP_001458.1:p.Ser55Arg
NM_001467.6:c.163A>C NP_001458.1:p.Ser55Arg
ENST00000330775.9:c.163A>C ENSP00000476242.2:p.Ser55Arg
ENST00000357590.9:c.163A>C ENSP00000476176.2:p.Ser55Arg
ENST00000524428.5:n.163A>C
ENST00000525039.5:n.586A>C
ENST00000525102.5:n.920A>C
ENST00000525372.5:n.163A>C
ENST00000525787.1:n.458A>C
ENST00000526275.5:n.623A>C
ENST00000526626.6:n.344-540A>C
ENST00000527992.5:n.390A>C
ENST00000529510.5:n.181A>C
ENST00000529510.6:n.392A>C
ENST00000530407.5:n.312A>C
ENST00000532085.1:n.2452A>C
ENST00000532888.6:n.458A>C
ENST00000534384.1:n.383A>C
ENST00000538950.5:c.-57A>C ENSP00000475991.2:n.-57A>C
ENST00000545985.5:c.163A>C ENSP00000475241.2:p.Ser55Arg
ENST00000638186.1:n.466A>C
ENST00000638360.1:n.400A>C
ENST00000638925.1:n.399A>C
ENST00000650539.1:n.568A>C
ENST00000697845.1:n.316A>C
ENST00000697846.1:n.392A>C
ENST00000697847.1:n.392A>C
ENST00000697848.1:n.392A>C
ENST00000697849.1:n.1431A>C
ENST00000697850.1:n.392A>C
ENST00000697851.1:n.1431A>C