Canonical Allele Identifier: CA382902059

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 552209
• ClinVar RCV Id: RCV000667432
• dbSNP Id: rs777627677
• gnomAD v3: 11-119027675-T-C
• gnomAD v4: 11-119027675-T-C
• MyVariant Identifiers: chr11:g.118898385T>C (hg19) ; chr11:g.119027675T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027675T>C , CM000673.2:g.119027675T>C	GRCh38
NC_000011.9:g.118898385T>C , CM000673.1:g.118898385T>C	GRCh37
NC_000011.8:g.118403595T>C	NCBI36
NG_013331.1:g.8231A>G , LRG_187:g.8231A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.808A>G
ENST00000697845.1:n.732A>G
ENST00000697846.1:n.808A>G
ENST00000697847.1:n.808A>G
ENST00000697848.1:n.808A>G
ENST00000697849.1:n.1847A>G
ENST00000697850.1:n.808A>G
ENST00000697851.1:n.2168A>G
ENST00000638186.1:n.882A>G
ENST00000638360.1:n.714A>G
ENST00000638925.1:n.815A>G
ENST00000650539.1:n.984A>G
ENST00000330775.9:c.578A>G	ENSP00000476242.2:p.Asp193Gly
ENST00000357590.9:c.578A>G	ENSP00000476176.2:p.Asp193Gly
ENST00000524428.5:n.900A>G
ENST00000525039.5:n.1002A>G
ENST00000525102.5:n.1336A>G
ENST00000525372.5:n.579A>G
ENST00000526275.5:n.1360A>G
ENST00000526626.6:n.541A>G
ENST00000527992.5:n.806A>G
ENST00000529510.5:n.399+519A>G
ENST00000530407.5:n.728A>G
ENST00000532085.1:n.3189A>G
ENST00000532888.6:n.874A>G
ENST00000538950.5:c.359A>G	ENSP00000475991.2:p.Asp120Gly
ENST00000545985.5:c.578A>G	ENSP00000475241.2:p.Asp193Gly
NM_001164277.1:c.578A>G , LRG_187t1:c.578A>G	NP_001157749.1:p.Asp193Gly
NM_001164278.1:c.578A>G	NP_001157750.1:p.Asp193Gly
NM_001164279.1:c.359A>G	NP_001157751.1:p.Asp120Gly
NM_001164280.1:c.578A>G	NP_001157752.1:p.Asp193Gly
NM_001467.5:c.578A>G	NP_001458.1:p.Asp193Gly
NM_001164278.2:c.578A>G	NP_001157750.1:p.Asp193Gly
NM_001164279.2:c.359A>G	NP_001157751.1:p.Asp120Gly
NM_001164280.2:c.578A>G	NP_001157752.1:p.Asp193Gly
NM_001467.6:c.578A>G	NP_001458.1:p.Asp193Gly
NM_001164277.2:c.578A>G MANE Select	NP_001157749.1:p.Asp193Gly