Canonical Allele Identifier: CA382901875

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 2897501
• ClinVar RCV Id: RCV003618890
• dbSNP Id: rs1943610930
• MyVariant Identifiers: chr11:g.118898350C>T (hg19) ; chr11:g.119027640C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027640C>T , CM000673.2:g.119027640C>T	GRCh38
NC_000011.9:g.118898350C>T , CM000673.1:g.118898350C>T	GRCh37
NC_000011.8:g.118403560C>T	NCBI36
NG_013331.1:g.8266G>A , LRG_187:g.8266G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.843G>A
ENST00000697845.1:n.767G>A
ENST00000697846.1:n.843G>A
ENST00000697847.1:n.843G>A
ENST00000697848.1:n.843G>A
ENST00000697849.1:n.1882G>A
ENST00000697850.1:n.843G>A
ENST00000697851.1:n.2203G>A
ENST00000638186.1:n.917G>A
ENST00000638360.1:n.749G>A
ENST00000638925.1:n.850G>A
ENST00000650539.1:n.1019G>A
ENST00000330775.9:c.613G>A	ENSP00000476242.2:p.Glu205Lys
ENST00000357590.9:c.613G>A	ENSP00000476176.2:p.Glu205Lys
ENST00000524428.5:n.935G>A
ENST00000525039.5:n.1037G>A
ENST00000525102.5:n.1371G>A
ENST00000525372.5:n.614G>A
ENST00000526275.5:n.1395G>A
ENST00000526626.6:n.576G>A
ENST00000527992.5:n.841G>A
ENST00000529510.5:n.400-545G>A
ENST00000530407.5:n.763G>A
ENST00000532085.1:n.3224G>A
ENST00000532888.6:n.909G>A
ENST00000538950.5:c.394G>A	ENSP00000475991.2:p.Glu132Lys
ENST00000545985.5:c.613G>A	ENSP00000475241.2:p.Glu205Lys
NM_001164277.1:c.613G>A , LRG_187t1:c.613G>A	NP_001157749.1:p.Glu205Lys
NM_001164278.1:c.613G>A	NP_001157750.1:p.Glu205Lys
NM_001164279.1:c.394G>A	NP_001157751.1:p.Glu132Lys
NM_001164280.1:c.613G>A	NP_001157752.1:p.Glu205Lys
NM_001467.5:c.613G>A	NP_001458.1:p.Glu205Lys
NM_001164278.2:c.613G>A	NP_001157750.1:p.Glu205Lys
NM_001164279.2:c.394G>A	NP_001157751.1:p.Glu132Lys
NM_001164280.2:c.613G>A	NP_001157752.1:p.Glu205Lys
NM_001467.6:c.613G>A	NP_001458.1:p.Glu205Lys
NM_001164277.2:c.613G>A MANE Select	NP_001157749.1:p.Glu205Lys