Canonical Allele Identifier: CA382908448
Gene: SLC37A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2172207
ClinVar RCV Id: RCV003087309
dbSNP Id: rs987244110

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119029281G>A , CM000673.2:g.119029281G>A GRCh38
NC_000011.9:g.118899991G>A , CM000673.1:g.118899991G>A GRCh37
NC_000011.8:g.118405201G>A NCBI36
NG_013331.1:g.6626C>T , LRG_187:g.6626C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000529510.6:n.318C>T
ENST00000697846.1:n.318C>T
ENST00000697847.1:n.318C>T
ENST00000697848.1:n.318C>T
ENST00000697849.1:n.562C>T
ENST00000697850.1:n.318C>T
ENST00000697851.1:n.562C>T
ENST00000638186.1:n.392C>T
ENST00000638360.1:n.326C>T
ENST00000638925.1:n.325C>T
ENST00000650539.1:n.494C>T
ENST00000330775.9:c.89C>T ENSP00000476242.2:p.Thr30Ile
ENST00000357590.9:c.89C>T ENSP00000476176.2:p.Thr30Ile
ENST00000524428.5:n.89C>T
ENST00000525039.5:n.512C>T
ENST00000525102.5:n.846C>T
ENST00000525372.5:n.89C>T
ENST00000525787.1:n.384C>T
ENST00000526626.6:n.284C>T
ENST00000527992.5:n.316C>T
ENST00000529510.5:n.107C>T
ENST00000530407.5:n.197+111C>T
ENST00000532085.1:n.1583C>T
ENST00000532888.6:n.284C>T
ENST00000534384.1:n.309C>T
ENST00000538950.5:c.-172+111C>T ENSP00000475991.2:n.-172+111C>T
ENST00000545985.5:c.89C>T ENSP00000475241.2:p.Thr30Ile
NM_001164277.1:c.89C>T , LRG_187t1:c.89C>T NP_001157749.1:p.Thr30Ile
NM_001164278.1:c.89C>T NP_001157750.1:p.Thr30Ile
NM_001164279.1:c.-172+111C>T NP_001157751.1:n.-172+111C>T
NM_001164280.1:c.89C>T NP_001157752.1:p.Thr30Ile
NM_001467.5:c.89C>T NP_001458.1:p.Thr30Ile
NM_001164278.2:c.89C>T NP_001157750.1:p.Thr30Ile
NM_001164279.2:c.-172+111C>T NP_001157751.1:n.-172+111C>T
NM_001164280.2:c.89C>T NP_001157752.1:p.Thr30Ile
NM_001467.6:c.89C>T NP_001458.1:p.Thr30Ile
NM_001164277.2:c.89C>T MANE Select NP_001157749.1:p.Thr30Ile