Canonical Allele Identifier: CA382903734

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 557610
• ClinVar RCV Id: RCV000673776
• dbSNP Id: rs1555191378
• gnomAD v4: 11-119027832-A-T
• MyVariant Identifiers: chr11:g.118898542A>T (hg19) ; chr11:g.119027832A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027832A>T , CM000673.2:g.119027832A>T	GRCh38
NC_000011.9:g.118898542A>T , CM000673.1:g.118898542A>T	GRCh37
NC_000011.8:g.118403752A>T	NCBI36
NG_013331.1:g.8075T>A , LRG_187:g.8075T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.651T>A
ENST00000697845.1:n.575T>A
ENST00000697846.1:n.651T>A
ENST00000697847.1:n.651T>A
ENST00000697848.1:n.651T>A
ENST00000697849.1:n.1690T>A
ENST00000697850.1:n.651T>A
ENST00000697851.1:n.2011T>A
ENST00000638186.1:n.725T>A
ENST00000638360.1:n.619-62T>A
ENST00000638925.1:n.658T>A
ENST00000650539.1:n.827T>A
ENST00000330775.9:c.422T>A	ENSP00000476242.2:p.Leu141Gln
ENST00000357590.9:c.422T>A	ENSP00000476176.2:p.Leu141Gln
ENST00000524428.5:n.743T>A
ENST00000525039.5:n.845T>A
ENST00000525102.5:n.1179T>A
ENST00000525372.5:n.422T>A
ENST00000525787.1:n.1038T>A
ENST00000526275.5:n.1203T>A
ENST00000526626.6:n.384T>A
ENST00000527992.5:n.649T>A
ENST00000529510.5:n.399+362T>A
ENST00000530407.5:n.571T>A
ENST00000532085.1:n.3032T>A
ENST00000532888.6:n.717T>A
ENST00000538950.5:c.203T>A	ENSP00000475991.2:p.Leu68Gln
ENST00000545985.5:c.422T>A	ENSP00000475241.2:p.Leu141Gln
NM_001164277.1:c.422T>A , LRG_187t1:c.422T>A	NP_001157749.1:p.Leu141Gln
NM_001164278.1:c.422T>A	NP_001157750.1:p.Leu141Gln
NM_001164279.1:c.203T>A	NP_001157751.1:p.Leu68Gln
NM_001164280.1:c.422T>A	NP_001157752.1:p.Leu141Gln
NM_001467.5:c.422T>A	NP_001458.1:p.Leu141Gln
NM_001164278.2:c.422T>A	NP_001157750.1:p.Leu141Gln
NM_001164279.2:c.203T>A	NP_001157751.1:p.Leu68Gln
NM_001164280.2:c.422T>A	NP_001157752.1:p.Leu141Gln
NM_001467.6:c.422T>A	NP_001458.1:p.Leu141Gln
NM_001164277.2:c.422T>A MANE Select	NP_001157749.1:p.Leu141Gln