Canonical Allele Identifier: CA477125056

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 1614760
• ClinVar RCV Id: RCV002078851
• dbSNP Id: rs2134631794
• MyVariant Identifiers: chr11:g.118896761G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026051G>A , CM000673.2:g.119026051G>A	GRCh38
NC_000011.9:g.118896761G>A , CM000673.1:g.118896761G>A	GRCh37
NC_000011.8:g.118401971G>A	NCBI36
NG_013331.1:g.9855C>T , LRG_187:g.9855C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1044C>T
ENST00000697845.1:n.1824C>T
ENST00000697846.1:n.1044C>T
ENST00000697847.1:n.1202-294C>T
ENST00000697848.1:n.1130C>T
ENST00000697849.1:n.2939C>T
ENST00000697850.1:n.1130C>T
ENST00000697851.1:n.2738C>T
ENST00000638186.1:n.1204C>T
ENST00000638360.1:n.1036C>T
ENST00000638925.1:n.1169C>T
ENST00000650539.1:n.1306C>T
ENST00000330775.9:c.900C>T	ENSP00000476242.2:p.Arg300=
ENST00000357590.9:c.900C>T	ENSP00000476176.2:p.Arg300=
ENST00000524428.5:n.1136C>T
ENST00000525039.5:n.1324C>T
ENST00000525102.5:n.1658C>T
ENST00000525372.5:n.998C>T
ENST00000526275.5:n.1682C>T
ENST00000527992.5:n.1128C>T
ENST00000529510.5:n.588C>T
ENST00000530407.5:n.1050C>T
ENST00000532085.1:n.4281C>T
ENST00000538950.5:c.681C>T	ENSP00000475991.2:p.Arg227=
ENST00000545985.5:c.900C>T	ENSP00000475241.2:p.Arg300=
NM_001164277.1:c.900C>T , LRG_187t1:c.900C>T	NP_001157749.1:p.Arg300=
NM_001164278.1:c.900C>T	NP_001157750.1:p.Arg300=
NM_001164279.1:c.681C>T	NP_001157751.1:p.Arg227=
NM_001164280.1:c.900C>T	NP_001157752.1:p.Arg300=
NM_001467.5:c.900C>T	NP_001458.1:p.Arg300=
NM_001164278.2:c.900C>T	NP_001157750.1:p.Arg300=
NM_001164279.2:c.681C>T	NP_001157751.1:p.Arg227=
NM_001164280.2:c.900C>T	NP_001157752.1:p.Arg300=
NM_001467.6:c.900C>T	NP_001458.1:p.Arg300=
NM_001164277.2:c.900C>T MANE Select	NP_001157749.1:p.Arg300=