Canonical Allele Identifier: CA382904186

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 557478
• ClinVar RCV Id: RCV000673626
• dbSNP Id: rs1465764979
• gnomAD v4: 11-119027865-T-G
• MyVariant Identifiers: chr11:g.118898575T>G (hg19) ; chr11:g.119027865T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027865T>G , CM000673.2:g.119027865T>G	GRCh38
NC_000011.9:g.118898575T>G , CM000673.1:g.118898575T>G	GRCh37
NC_000011.8:g.118403785T>G	NCBI36
NG_013331.1:g.8042A>C , LRG_187:g.8042A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.618A>C
ENST00000697845.1:n.542A>C
ENST00000697846.1:n.618A>C
ENST00000697847.1:n.618A>C
ENST00000697848.1:n.618A>C
ENST00000697849.1:n.1657A>C
ENST00000697850.1:n.618A>C
ENST00000697851.1:n.1978A>C
ENST00000638186.1:n.692A>C
ENST00000638360.1:n.619-95A>C
ENST00000638925.1:n.625A>C
ENST00000650539.1:n.794A>C
ENST00000330775.9:c.389A>C	ENSP00000476242.2:p.Glu130Ala
ENST00000357590.9:c.389A>C	ENSP00000476176.2:p.Glu130Ala
ENST00000524428.5:n.710A>C
ENST00000525039.5:n.812A>C
ENST00000525102.5:n.1146A>C
ENST00000525372.5:n.389A>C
ENST00000525787.1:n.1005A>C
ENST00000526275.5:n.1170A>C
ENST00000526626.6:n.351A>C
ENST00000527992.5:n.616A>C
ENST00000529510.5:n.399+329A>C
ENST00000530407.5:n.538A>C
ENST00000532085.1:n.2999A>C
ENST00000532888.6:n.684A>C
ENST00000538950.5:c.170A>C	ENSP00000475991.2:p.Glu57Ala
ENST00000545985.5:c.389A>C	ENSP00000475241.2:p.Glu130Ala
NM_001164277.1:c.389A>C , LRG_187t1:c.389A>C	NP_001157749.1:p.Glu130Ala
NM_001164278.1:c.389A>C	NP_001157750.1:p.Glu130Ala
NM_001164279.1:c.170A>C	NP_001157751.1:p.Glu57Ala
NM_001164280.1:c.389A>C	NP_001157752.1:p.Glu130Ala
NM_001467.5:c.389A>C	NP_001458.1:p.Glu130Ala
NM_001164278.2:c.389A>C	NP_001157750.1:p.Glu130Ala
NM_001164279.2:c.170A>C	NP_001157751.1:p.Glu57Ala
NM_001164280.2:c.389A>C	NP_001157752.1:p.Glu130Ala
NM_001467.6:c.389A>C	NP_001458.1:p.Glu130Ala
NM_001164277.2:c.389A>C MANE Select	NP_001157749.1:p.Glu130Ala