Canonical Allele Identifier: CA6311914
Gene: SLC37A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 965218
dbSNP Id: rs782644732

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119029270C>T , CM000673.2:g.119029270C>T GRCh38
NC_000011.9:g.118899980C>T , CM000673.1:g.118899980C>T GRCh37
NC_000011.8:g.118405190C>T NCBI36
NG_013331.1:g.6637G>A , LRG_187:g.6637G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000529510.6:n.329G>A
ENST00000697846.1:n.329G>A
ENST00000697847.1:n.329G>A
ENST00000697848.1:n.329G>A
ENST00000697849.1:n.573G>A
ENST00000697850.1:n.329G>A
ENST00000697851.1:n.573G>A
ENST00000638186.1:n.403G>A
ENST00000638360.1:n.337G>A
ENST00000638925.1:n.336G>A
ENST00000650539.1:n.505G>A
ENST00000330775.9:c.100G>A ENSP00000476242.2:p.Val34Ile
ENST00000357590.9:c.100G>A ENSP00000476176.2:p.Val34Ile
ENST00000524428.5:n.100G>A
ENST00000525039.5:n.523G>A
ENST00000525102.5:n.857G>A
ENST00000525372.5:n.100G>A
ENST00000525787.1:n.395G>A
ENST00000526626.6:n.295G>A
ENST00000527992.5:n.327G>A
ENST00000529510.5:n.118G>A
ENST00000530407.5:n.197+122G>A
ENST00000532085.1:n.1594G>A
ENST00000532888.6:n.295G>A
ENST00000534384.1:n.320G>A
ENST00000538950.5:c.-172+122G>A ENSP00000475991.2:n.-172+122G>A
ENST00000545985.5:c.100G>A ENSP00000475241.2:p.Val34Ile
NM_001164277.1:c.100G>A , LRG_187t1:c.100G>A NP_001157749.1:p.Val34Ile
NM_001164278.1:c.100G>A NP_001157750.1:p.Val34Ile
NM_001164279.1:c.-172+122G>A NP_001157751.1:n.-172+122G>A
NM_001164280.1:c.100G>A NP_001157752.1:p.Val34Ile
NM_001467.5:c.100G>A NP_001458.1:p.Val34Ile
NM_001164278.2:c.100G>A NP_001157750.1:p.Val34Ile
NM_001164279.2:c.-172+122G>A NP_001157751.1:n.-172+122G>A
NM_001164280.2:c.100G>A NP_001157752.1:p.Val34Ile
NM_001467.6:c.100G>A NP_001458.1:p.Val34Ile
NM_001164277.2:c.100G>A MANE Select NP_001157749.1:p.Val34Ile