Canonical Allele Identifier: CA382901973

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 1468368
• ClinVar RCV Id: RCV001993648
• dbSNP Id: rs2134637316
• MyVariant Identifiers: chr11:g.118898367A>C (hg19) ; chr11:g.119027657A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027657A>C , CM000673.2:g.119027657A>C	GRCh38
NC_000011.9:g.118898367A>C , CM000673.1:g.118898367A>C	GRCh37
NC_000011.8:g.118403577A>C	NCBI36
NG_013331.1:g.8249T>G , LRG_187:g.8249T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.826T>G
ENST00000697845.1:n.750T>G
ENST00000697846.1:n.826T>G
ENST00000697847.1:n.826T>G
ENST00000697848.1:n.826T>G
ENST00000697849.1:n.1865T>G
ENST00000697850.1:n.826T>G
ENST00000697851.1:n.2186T>G
ENST00000638186.1:n.900T>G
ENST00000638360.1:n.732T>G
ENST00000638925.1:n.833T>G
ENST00000650539.1:n.1002T>G
ENST00000330775.9:c.596T>G	ENSP00000476242.2:p.Leu199Arg
ENST00000357590.9:c.596T>G	ENSP00000476176.2:p.Leu199Arg
ENST00000524428.5:n.918T>G
ENST00000525039.5:n.1020T>G
ENST00000525102.5:n.1354T>G
ENST00000525372.5:n.597T>G
ENST00000526275.5:n.1378T>G
ENST00000526626.6:n.559T>G
ENST00000527992.5:n.824T>G
ENST00000529510.5:n.399+537T>G
ENST00000530407.5:n.746T>G
ENST00000532085.1:n.3207T>G
ENST00000532888.6:n.892T>G
ENST00000538950.5:c.377T>G	ENSP00000475991.2:p.Leu126Arg
ENST00000545985.5:c.596T>G	ENSP00000475241.2:p.Leu199Arg
NM_001164277.1:c.596T>G , LRG_187t1:c.596T>G	NP_001157749.1:p.Leu199Arg
NM_001164278.1:c.596T>G	NP_001157750.1:p.Leu199Arg
NM_001164279.1:c.377T>G	NP_001157751.1:p.Leu126Arg
NM_001164280.1:c.596T>G	NP_001157752.1:p.Leu199Arg
NM_001467.5:c.596T>G	NP_001458.1:p.Leu199Arg
NM_001164278.2:c.596T>G	NP_001157750.1:p.Leu199Arg
NM_001164279.2:c.377T>G	NP_001157751.1:p.Leu126Arg
NM_001164280.2:c.596T>G	NP_001157752.1:p.Leu199Arg
NM_001467.6:c.596T>G	NP_001458.1:p.Leu199Arg
NM_001164277.2:c.596T>G MANE Select	NP_001157749.1:p.Leu199Arg