Canonical Allele Identifier: CA382901074
Gene: SLC37A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119026983C>A , CM000673.2:g.119026983C>A GRCh38
NC_000011.9:g.118897693C>A , CM000673.1:g.118897693C>A GRCh37
NC_000011.8:g.118402903C>A NCBI36
NG_013331.1:g.8923G>T , LRG_187:g.8923G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000529510.6:n.968G>T
ENST00000697845.1:n.892G>T
ENST00000697846.1:n.968G>T
ENST00000697847.1:n.968G>T
ENST00000697848.1:n.968G>T
ENST00000697849.1:n.2007G>T
ENST00000697850.1:n.968G>T
ENST00000697851.1:n.2328G>T
ENST00000638186.1:n.1042G>T
ENST00000638360.1:n.874G>T
ENST00000638925.1:n.975G>T
ENST00000650539.1:n.1144G>T
ENST00000330775.9:c.738G>T ENSP00000476242.2:p.Trp246Cys
ENST00000357590.9:c.738G>T ENSP00000476176.2:p.Trp246Cys
ENST00000524428.5:n.1060G>T
ENST00000525039.5:n.1162G>T
ENST00000525102.5:n.1496G>T
ENST00000525372.5:n.739G>T
ENST00000526275.5:n.1520G>T
ENST00000526626.6:n.701G>T
ENST00000527992.5:n.966G>T
ENST00000529510.5:n.512G>T
ENST00000530407.5:n.888G>T
ENST00000532085.1:n.3349G>T
ENST00000532888.6:n.1034G>T
ENST00000538950.5:c.519G>T ENSP00000475991.2:p.Trp173Cys
ENST00000545985.5:c.738G>T ENSP00000475241.2:p.Trp246Cys
NM_001164277.1:c.738G>T , LRG_187t1:c.738G>T NP_001157749.1:p.Trp246Cys
NM_001164278.1:c.738G>T NP_001157750.1:p.Trp246Cys
NM_001164279.1:c.519G>T NP_001157751.1:p.Trp173Cys
NM_001164280.1:c.738G>T NP_001157752.1:p.Trp246Cys
NM_001467.5:c.738G>T NP_001458.1:p.Trp246Cys
NM_001164278.2:c.738G>T NP_001157750.1:p.Trp246Cys
NM_001164279.2:c.519G>T NP_001157751.1:p.Trp173Cys
NM_001164280.2:c.738G>T NP_001157752.1:p.Trp246Cys
NM_001467.6:c.738G>T NP_001458.1:p.Trp246Cys
NM_001164277.2:c.738G>T MANE Select NP_001157749.1:p.Trp246Cys