Canonical Allele Identifier: CA382904209

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 552248
• ClinVar RCV Id: RCV000667475
• dbSNP Id: rs1555191401
• MyVariant Identifiers: chr11:g.118898576C>T (hg19) ; chr11:g.119027866C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027866C>T , CM000673.2:g.119027866C>T	GRCh38
NC_000011.9:g.118898576C>T , CM000673.1:g.118898576C>T	GRCh37
NC_000011.8:g.118403786C>T	NCBI36
NG_013331.1:g.8041G>A , LRG_187:g.8041G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.617G>A
ENST00000697845.1:n.541G>A
ENST00000697846.1:n.617G>A
ENST00000697847.1:n.617G>A
ENST00000697848.1:n.617G>A
ENST00000697849.1:n.1656G>A
ENST00000697850.1:n.617G>A
ENST00000697851.1:n.1977G>A
ENST00000638186.1:n.691G>A
ENST00000638360.1:n.619-96G>A
ENST00000638925.1:n.624G>A
ENST00000650539.1:n.793G>A
ENST00000330775.9:c.388G>A	ENSP00000476242.2:p.Glu130Lys
ENST00000357590.9:c.388G>A	ENSP00000476176.2:p.Glu130Lys
ENST00000524428.5:n.709G>A
ENST00000525039.5:n.811G>A
ENST00000525102.5:n.1145G>A
ENST00000525372.5:n.388G>A
ENST00000525787.1:n.1004G>A
ENST00000526275.5:n.1169G>A
ENST00000526626.6:n.350G>A
ENST00000527992.5:n.615G>A
ENST00000529510.5:n.399+328G>A
ENST00000530407.5:n.537G>A
ENST00000532085.1:n.2998G>A
ENST00000532888.6:n.683G>A
ENST00000538950.5:c.169G>A	ENSP00000475991.2:p.Glu57Lys
ENST00000545985.5:c.388G>A	ENSP00000475241.2:p.Glu130Lys
NM_001164277.1:c.388G>A , LRG_187t1:c.388G>A	NP_001157749.1:p.Glu130Lys
NM_001164278.1:c.388G>A	NP_001157750.1:p.Glu130Lys
NM_001164279.1:c.169G>A	NP_001157751.1:p.Glu57Lys
NM_001164280.1:c.388G>A	NP_001157752.1:p.Glu130Lys
NM_001467.5:c.388G>A	NP_001458.1:p.Glu130Lys
NM_001164278.2:c.388G>A	NP_001157750.1:p.Glu130Lys
NM_001164279.2:c.169G>A	NP_001157751.1:p.Glu57Lys
NM_001164280.2:c.388G>A	NP_001157752.1:p.Glu130Lys
NM_001467.6:c.388G>A	NP_001458.1:p.Glu130Lys
NM_001164277.2:c.388G>A MANE Select	NP_001157749.1:p.Glu130Lys