Canonical Allele Identifier: CA321772
Community Standard Title: NM_001164277.2(SLC37A4):c.467C>T (p.Ala156Val)
Gene: SLC37A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119027787G>A , CM000673.2:g.119027787G>A GRCh38
NC_000011.9:g.118898497G>A , CM000673.1:g.118898497G>A GRCh37
NC_000011.8:g.118403707G>A NCBI36
NG_013331.1:g.8120C>T , LRG_187:g.8120C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001164277.2:c.467C>T MANE Select NP_001157749.1:p.Ala156Val
NM_001164277.1:c.467C>T , LRG_187t1:c.467C>T NP_001157749.1:p.Ala156Val
NM_001164278.1:c.467C>T NP_001157750.1:p.Ala156Val
NM_001164278.2:c.467C>T NP_001157750.1:p.Ala156Val
NM_001164279.1:c.248C>T NP_001157751.1:p.Ala83Val
NM_001164279.2:c.248C>T NP_001157751.1:p.Ala83Val
NM_001164280.1:c.467C>T NP_001157752.1:p.Ala156Val
NM_001164280.2:c.467C>T NP_001157752.1:p.Ala156Val
NM_001467.5:c.467C>T NP_001458.1:p.Ala156Val
NM_001467.6:c.467C>T NP_001458.1:p.Ala156Val
ENST00000330775.9:c.467C>T ENSP00000476242.2:p.Ala156Val
ENST00000357590.9:c.467C>T ENSP00000476176.2:p.Ala156Val
ENST00000524428.5:n.788C>T
ENST00000525039.5:n.890C>T
ENST00000525102.5:n.1224C>T
ENST00000525372.5:n.467C>T
ENST00000526275.5:n.1248C>T
ENST00000526626.6:n.429C>T
ENST00000527992.5:n.694C>T
ENST00000529510.5:n.399+407C>T
ENST00000529510.6:n.696C>T
ENST00000530407.5:n.616C>T
ENST00000532085.1:n.3077C>T
ENST00000532888.6:n.762C>T
ENST00000538950.5:c.248C>T ENSP00000475991.2:p.Ala83Val
ENST00000545985.5:c.467C>T ENSP00000475241.2:p.Ala156Val
ENST00000638186.1:n.770C>T
ENST00000638360.1:n.619-17C>T
ENST00000638925.1:n.703C>T
ENST00000650539.1:n.872C>T
ENST00000697845.1:n.620C>T
ENST00000697846.1:n.696C>T
ENST00000697847.1:n.696C>T
ENST00000697848.1:n.696C>T
ENST00000697849.1:n.1735C>T
ENST00000697850.1:n.696C>T
ENST00000697851.1:n.2056C>T