Canonical Allele Identifier: CA477124960

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 557097
• ClinVar RCV Id: RCV000673188
• dbSNP Id: rs973616226
• gnomAD v2: 11-118896704-C-T
• MyVariant Identifiers: chr11:g.118896704C>T (hg19) ; chr11:g.119025994C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025994C>T , CM000673.2:g.119025994C>T	GRCh38
NC_000011.9:g.118896704C>T , CM000673.1:g.118896704C>T	GRCh37
NC_000011.8:g.118401914C>T	NCBI36
NG_013331.1:g.9912G>A , LRG_187:g.9912G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1101G>A
ENST00000697845.1:n.1881G>A
ENST00000697846.1:n.1101G>A
ENST00000697847.1:n.1202-237G>A
ENST00000697848.1:n.1187G>A
ENST00000697849.1:n.2996G>A
ENST00000697850.1:n.1187G>A
ENST00000697851.1:n.2795G>A
ENST00000638186.1:n.1261G>A
ENST00000638360.1:n.1093G>A
ENST00000638925.1:n.1226G>A
ENST00000650539.1:n.1363G>A
ENST00000330775.9:c.957G>A	ENSP00000476242.2:p.Arg319=
ENST00000357590.9:c.957G>A	ENSP00000476176.2:p.Arg319=
ENST00000524428.5:n.1193G>A
ENST00000525039.5:n.1381G>A
ENST00000525102.5:n.1715G>A
ENST00000525372.5:n.1055G>A
ENST00000526275.5:n.1739G>A
ENST00000527992.5:n.1185G>A
ENST00000529510.5:n.645G>A
ENST00000530407.5:n.1107G>A
ENST00000532085.1:n.4338G>A
ENST00000538950.5:c.738G>A	ENSP00000475991.2:p.Arg246=
ENST00000545985.5:c.957G>A	ENSP00000475241.2:p.Arg319=
NM_001164277.1:c.957G>A , LRG_187t1:c.957G>A	NP_001157749.1:p.Arg319=
NM_001164278.1:c.957G>A	NP_001157750.1:p.Arg319=
NM_001164279.1:c.738G>A	NP_001157751.1:p.Arg246=
NM_001164280.1:c.957G>A	NP_001157752.1:p.Arg319=
NM_001467.5:c.957G>A	NP_001458.1:p.Arg319=
NM_001164278.2:c.957G>A	NP_001157750.1:p.Arg319=
NM_001164279.2:c.738G>A	NP_001157751.1:p.Arg246=
NM_001164280.2:c.957G>A	NP_001157752.1:p.Arg319=
NM_001467.6:c.957G>A	NP_001458.1:p.Arg319=
NM_001164277.2:c.957G>A MANE Select	NP_001157749.1:p.Arg319=