Canonical Allele Identifier: CA321255
Community Standard Title: NM_001164277.2(SLC37A4):c.968C>T (p.Thr323Ile)
Gene: SLC37A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119025983G>A , CM000673.2:g.119025983G>A GRCh38
NC_000011.9:g.118896693G>A , CM000673.1:g.118896693G>A GRCh37
NC_000011.8:g.118401903G>A NCBI36
NG_013331.1:g.9923C>T , LRG_187:g.9923C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001164277.2:c.968C>T MANE Select NP_001157749.1:p.Thr323Ile
NM_001164277.1:c.968C>T , LRG_187t1:c.968C>T NP_001157749.1:p.Thr323Ile
NM_001164278.1:c.968C>T NP_001157750.1:p.Thr323Ile
NM_001164278.2:c.968C>T NP_001157750.1:p.Thr323Ile
NM_001164279.1:c.749C>T NP_001157751.1:p.Thr250Ile
NM_001164279.2:c.749C>T NP_001157751.1:p.Thr250Ile
NM_001164280.1:c.968C>T NP_001157752.1:p.Thr323Ile
NM_001164280.2:c.968C>T NP_001157752.1:p.Thr323Ile
NM_001467.5:c.968C>T NP_001458.1:p.Thr323Ile
NM_001467.6:c.968C>T NP_001458.1:p.Thr323Ile
ENST00000330775.9:c.968C>T ENSP00000476242.2:p.Thr323Ile
ENST00000357590.9:c.968C>T ENSP00000476176.2:p.Thr323Ile
ENST00000524428.5:n.1204C>T
ENST00000525039.5:n.1392C>T
ENST00000525102.5:n.1726C>T
ENST00000525372.5:n.1066C>T
ENST00000526275.5:n.1750C>T
ENST00000527992.5:n.1196C>T
ENST00000529510.5:n.656C>T
ENST00000529510.6:n.1112C>T
ENST00000530407.5:n.1118C>T
ENST00000532085.1:n.4349C>T
ENST00000538950.5:c.749C>T ENSP00000475991.2:p.Thr250Ile
ENST00000545985.5:c.968C>T ENSP00000475241.2:p.Thr323Ile
ENST00000638186.1:n.1272C>T
ENST00000638360.1:n.1104C>T
ENST00000638925.1:n.1237C>T
ENST00000650539.1:n.1374C>T
ENST00000697845.1:n.1892C>T
ENST00000697846.1:n.1112C>T
ENST00000697847.1:n.1202-226C>T
ENST00000697848.1:n.1198C>T
ENST00000697849.1:n.3007C>T
ENST00000697850.1:n.1198C>T
ENST00000697851.1:n.2806C>T