Canonical Allele Identifier: CA477126519

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 2052474
• ClinVar RCV Id: RCV002932762
• gnomAD v4: 11-119028200-C-T
• MyVariant Identifiers: chr11:g.118898910C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119028200C>T , CM000673.2:g.119028200C>T	GRCh38
NC_000011.9:g.118898910C>T , CM000673.1:g.118898910C>T	GRCh37
NC_000011.8:g.118404120C>T	NCBI36
NG_013331.1:g.7707G>A , LRG_187:g.7707G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.604G>A
ENST00000697845.1:n.528G>A
ENST00000697846.1:n.604G>A
ENST00000697847.1:n.604G>A
ENST00000697848.1:n.604G>A
ENST00000697849.1:n.1643G>A
ENST00000697850.1:n.604G>A
ENST00000697851.1:n.1643G>A
ENST00000638186.1:n.678G>A
ENST00000638360.1:n.612G>A
ENST00000638925.1:n.611G>A
ENST00000650539.1:n.780G>A
ENST00000330775.9:c.375G>A	ENSP00000476242.2:p.Leu125=
ENST00000357590.9:c.375G>A	ENSP00000476176.2:p.Leu125=
ENST00000524428.5:n.375G>A
ENST00000525039.5:n.798G>A
ENST00000525102.5:n.1132G>A
ENST00000525372.5:n.375G>A
ENST00000525787.1:n.670G>A
ENST00000526275.5:n.835G>A
ENST00000526626.6:n.344-328G>A
ENST00000527992.5:n.602G>A
ENST00000529510.5:n.393G>A
ENST00000530407.5:n.524G>A
ENST00000532085.1:n.2664G>A
ENST00000532888.6:n.670G>A
ENST00000538950.5:c.156G>A	ENSP00000475991.2:p.Leu52=
ENST00000545985.5:c.375G>A	ENSP00000475241.2:p.Leu125=
NM_001164277.1:c.375G>A , LRG_187t1:c.375G>A	NP_001157749.1:p.Leu125=
NM_001164278.1:c.375G>A	NP_001157750.1:p.Leu125=
NM_001164279.1:c.156G>A	NP_001157751.1:p.Leu52=
NM_001164280.1:c.375G>A	NP_001157752.1:p.Leu125=
NM_001467.5:c.375G>A	NP_001458.1:p.Leu125=
NM_001164278.2:c.375G>A	NP_001157750.1:p.Leu125=
NM_001164279.2:c.156G>A	NP_001157751.1:p.Leu52=
NM_001164280.2:c.375G>A	NP_001157752.1:p.Leu125=
NM_001467.6:c.375G>A	NP_001458.1:p.Leu125=
NM_001164277.2:c.375G>A MANE Select	NP_001157749.1:p.Leu125=