Canonical Allele Identifier: CA382902093

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 558209
• ClinVar RCV Id: RCV000674442
• dbSNP Id: rs1555191237
• MyVariant Identifiers: chr11:g.118898393T>A (hg19) ; chr11:g.119027683T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027683T>A , CM000673.2:g.119027683T>A	GRCh38
NC_000011.9:g.118898393T>A , CM000673.1:g.118898393T>A	GRCh37
NC_000011.8:g.118403603T>A	NCBI36
NG_013331.1:g.8223A>T , LRG_187:g.8223A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.800A>T
ENST00000697845.1:n.724A>T
ENST00000697846.1:n.800A>T
ENST00000697847.1:n.800A>T
ENST00000697848.1:n.800A>T
ENST00000697849.1:n.1839A>T
ENST00000697850.1:n.800A>T
ENST00000697851.1:n.2160A>T
ENST00000638186.1:n.874A>T
ENST00000638360.1:n.706A>T
ENST00000638925.1:n.807A>T
ENST00000650539.1:n.976A>T
ENST00000330775.9:c.570A>T	ENSP00000476242.2:p.Glu190Asp
ENST00000357590.9:c.570A>T	ENSP00000476176.2:p.Glu190Asp
ENST00000524428.5:n.892A>T
ENST00000525039.5:n.994A>T
ENST00000525102.5:n.1328A>T
ENST00000525372.5:n.571A>T
ENST00000526275.5:n.1352A>T
ENST00000526626.6:n.533A>T
ENST00000527992.5:n.798A>T
ENST00000529510.5:n.399+511A>T
ENST00000530407.5:n.720A>T
ENST00000532085.1:n.3181A>T
ENST00000532888.6:n.866A>T
ENST00000538950.5:c.351A>T	ENSP00000475991.2:p.Glu117Asp
ENST00000545985.5:c.570A>T	ENSP00000475241.2:p.Glu190Asp
NM_001164277.1:c.570A>T , LRG_187t1:c.570A>T	NP_001157749.1:p.Glu190Asp
NM_001164278.1:c.570A>T	NP_001157750.1:p.Glu190Asp
NM_001164279.1:c.351A>T	NP_001157751.1:p.Glu117Asp
NM_001164280.1:c.570A>T	NP_001157752.1:p.Glu190Asp
NM_001467.5:c.570A>T	NP_001458.1:p.Glu190Asp
NM_001164278.2:c.570A>T	NP_001157750.1:p.Glu190Asp
NM_001164279.2:c.351A>T	NP_001157751.1:p.Glu117Asp
NM_001164280.2:c.570A>T	NP_001157752.1:p.Glu190Asp
NM_001467.6:c.570A>T	NP_001458.1:p.Glu190Asp
NM_001164277.2:c.570A>T MANE Select	NP_001157749.1:p.Glu190Asp