Canonical Allele Identifier: CA382908882

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 557755
• ClinVar RCV Id: RCV000673933
• dbSNP Id: rs1555191879
• MyVariant Identifiers: chr11:g.118900034C>T (hg19) ; chr11:g.119029324C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119029324C>T , CM000673.2:g.119029324C>T	GRCh38
NC_000011.9:g.118900034C>T , CM000673.1:g.118900034C>T	GRCh37
NC_000011.8:g.118405244C>T	NCBI36
NG_013331.1:g.6583G>A , LRG_187:g.6583G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.275G>A
ENST00000697846.1:n.275G>A
ENST00000697847.1:n.275G>A
ENST00000697848.1:n.275G>A
ENST00000697849.1:n.519G>A
ENST00000697850.1:n.275G>A
ENST00000697851.1:n.519G>A
ENST00000638186.1:n.349G>A
ENST00000638360.1:n.283G>A
ENST00000638925.1:n.282G>A
ENST00000650539.1:n.451G>A
ENST00000330775.9:c.46G>A	ENSP00000476242.2:p.Ala16Thr
ENST00000357590.9:c.46G>A	ENSP00000476176.2:p.Ala16Thr
ENST00000524428.5:n.46G>A
ENST00000525039.5:n.469G>A
ENST00000525102.5:n.803G>A
ENST00000525372.5:n.46G>A
ENST00000525787.1:n.341G>A
ENST00000526626.6:n.241G>A
ENST00000527992.5:n.273G>A
ENST00000529510.5:n.64G>A
ENST00000530407.5:n.197+68G>A
ENST00000532085.1:n.1540G>A
ENST00000532888.6:n.241G>A
ENST00000534384.1:n.266G>A
ENST00000538950.5:c.-172+68G>A	ENSP00000475991.2:n.-172+68G>A
ENST00000545985.5:c.46G>A	ENSP00000475241.2:p.Ala16Thr
NM_001164277.1:c.46G>A , LRG_187t1:c.46G>A	NP_001157749.1:p.Ala16Thr
NM_001164278.1:c.46G>A	NP_001157750.1:p.Ala16Thr
NM_001164279.1:c.-172+68G>A	NP_001157751.1:n.-172+68G>A
NM_001164280.1:c.46G>A	NP_001157752.1:p.Ala16Thr
NM_001467.5:c.46G>A	NP_001458.1:p.Ala16Thr
NM_001164278.2:c.46G>A	NP_001157750.1:p.Ala16Thr
NM_001164279.2:c.-172+68G>A	NP_001157751.1:n.-172+68G>A
NM_001164280.2:c.46G>A	NP_001157752.1:p.Ala16Thr
NM_001467.6:c.46G>A	NP_001458.1:p.Ala16Thr
NM_001164277.2:c.46G>A MANE Select	NP_001157749.1:p.Ala16Thr