Canonical Allele Identifier: CA382908431
Gene: SLC37A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 555164
ClinVar RCV Id: RCV000670930
dbSNP Id: rs1555191854

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119029278A>T , CM000673.2:g.119029278A>T GRCh38
NC_000011.9:g.118899988A>T , CM000673.1:g.118899988A>T GRCh37
NC_000011.8:g.118405198A>T NCBI36
NG_013331.1:g.6629T>A , LRG_187:g.6629T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000529510.6:n.321T>A
ENST00000697846.1:n.321T>A
ENST00000697847.1:n.321T>A
ENST00000697848.1:n.321T>A
ENST00000697849.1:n.565T>A
ENST00000697850.1:n.321T>A
ENST00000697851.1:n.565T>A
ENST00000638186.1:n.395T>A
ENST00000638360.1:n.329T>A
ENST00000638925.1:n.328T>A
ENST00000650539.1:n.497T>A
ENST00000330775.9:c.92T>A ENSP00000476242.2:p.Phe31Tyr
ENST00000357590.9:c.92T>A ENSP00000476176.2:p.Phe31Tyr
ENST00000524428.5:n.92T>A
ENST00000525039.5:n.515T>A
ENST00000525102.5:n.849T>A
ENST00000525372.5:n.92T>A
ENST00000525787.1:n.387T>A
ENST00000526626.6:n.287T>A
ENST00000527992.5:n.319T>A
ENST00000529510.5:n.110T>A
ENST00000530407.5:n.197+114T>A
ENST00000532085.1:n.1586T>A
ENST00000532888.6:n.287T>A
ENST00000534384.1:n.312T>A
ENST00000538950.5:c.-172+114T>A ENSP00000475991.2:n.-172+114T>A
ENST00000545985.5:c.92T>A ENSP00000475241.2:p.Phe31Tyr
NM_001164277.1:c.92T>A , LRG_187t1:c.92T>A NP_001157749.1:p.Phe31Tyr
NM_001164278.1:c.92T>A NP_001157750.1:p.Phe31Tyr
NM_001164279.1:c.-172+114T>A NP_001157751.1:n.-172+114T>A
NM_001164280.1:c.92T>A NP_001157752.1:p.Phe31Tyr
NM_001467.5:c.92T>A NP_001458.1:p.Phe31Tyr
NM_001164278.2:c.92T>A NP_001157750.1:p.Phe31Tyr
NM_001164279.2:c.-172+114T>A NP_001157751.1:n.-172+114T>A
NM_001164280.2:c.92T>A NP_001157752.1:p.Phe31Tyr
NM_001467.6:c.92T>A NP_001458.1:p.Phe31Tyr
NM_001164277.2:c.92T>A MANE Select NP_001157749.1:p.Phe31Tyr