Canonical Allele Identifier: CA219355
Gene: SLC37A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 68292
dbSNP Id: rs193302900

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119026640A>T , CM000673.2:g.119026640A>T GRCh38
NC_000011.9:g.118897350A>T , CM000673.1:g.118897350A>T GRCh37
NC_000011.8:g.118402560A>T NCBI36
NG_013331.1:g.9266T>A , LRG_187:g.9266T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000638186.1:n.1137T>A
ENST00000638360.1:n.969T>A
ENST00000638925.1:n.1070T>A
ENST00000650539.1:n.1239T>A
ENST00000330775.9:c.833T>A ENSP00000476242.2:p.Ile278Asn
ENST00000357590.9:c.833T>A ENSP00000476176.2:p.Ile278Asn
ENST00000524428.5:n.1106+297T>A
ENST00000525039.5:n.1257T>A
ENST00000525102.5:n.1591T>A
ENST00000525372.5:n.834T>A
ENST00000526275.5:n.1615T>A
ENST00000527992.5:n.1061T>A
ENST00000529510.5:n.558+297T>A
ENST00000530407.5:n.983T>A
ENST00000532085.1:n.3692T>A
ENST00000538950.5:c.614T>A ENSP00000475991.2:p.Ile205Asn
ENST00000545985.5:c.833T>A ENSP00000475241.2:p.Ile278Asn
NM_001164277.1:c.833T>A , LRG_187t1:c.833T>A NP_001157749.1:p.Ile278Asn
NM_001164278.1:c.833T>A NP_001157750.1:p.Ile278Asn
NM_001164279.1:c.614T>A NP_001157751.1:p.Ile205Asn
NM_001164280.1:c.833T>A NP_001157752.1:p.Ile278Asn
NM_001467.5:c.833T>A NP_001458.1:p.Ile278Asn
NM_001164278.2:c.833T>A NP_001157750.1:p.Ile278Asn
NM_001164279.2:c.614T>A NP_001157751.1:p.Ile205Asn
NM_001164280.2:c.833T>A NP_001157752.1:p.Ile278Asn
NM_001467.6:c.833T>A NP_001458.1:p.Ile278Asn
NM_001164277.2:c.833T>A NP_001157749.1:p.Ile278Asn