Canonical Allele Identifier: CA382901054

Gene: SLC37A4

Linked Data

• gnomAD v4: 11-119026979-G-C
• MyVariant Identifiers: chr11:g.118897689G>C (hg19) ; chr11:g.119026979G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026979G>C , CM000673.2:g.119026979G>C	GRCh38
NC_000011.9:g.118897689G>C , CM000673.1:g.118897689G>C	GRCh37
NC_000011.8:g.118402899G>C	NCBI36
NG_013331.1:g.8927C>G , LRG_187:g.8927C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.972C>G
ENST00000697845.1:n.896C>G
ENST00000697846.1:n.972C>G
ENST00000697847.1:n.972C>G
ENST00000697848.1:n.972C>G
ENST00000697849.1:n.2011C>G
ENST00000697850.1:n.972C>G
ENST00000697851.1:n.2332C>G
ENST00000638186.1:n.1046C>G
ENST00000638360.1:n.878C>G
ENST00000638925.1:n.979C>G
ENST00000650539.1:n.1148C>G
ENST00000330775.9:c.742C>G	ENSP00000476242.2:p.Gln248Glu
ENST00000357590.9:c.742C>G	ENSP00000476176.2:p.Gln248Glu
ENST00000524428.5:n.1064C>G
ENST00000525039.5:n.1166C>G
ENST00000525102.5:n.1500C>G
ENST00000525372.5:n.743C>G
ENST00000526275.5:n.1524C>G
ENST00000526626.6:n.705C>G
ENST00000527992.5:n.970C>G
ENST00000529510.5:n.516C>G
ENST00000530407.5:n.892C>G
ENST00000532085.1:n.3353C>G
ENST00000532888.6:n.1038C>G
ENST00000538950.5:c.523C>G	ENSP00000475991.2:p.Gln175Glu
ENST00000545985.5:c.742C>G	ENSP00000475241.2:p.Gln248Glu
NM_001164277.1:c.742C>G , LRG_187t1:c.742C>G	NP_001157749.1:p.Gln248Glu
NM_001164278.1:c.742C>G	NP_001157750.1:p.Gln248Glu
NM_001164279.1:c.523C>G	NP_001157751.1:p.Gln175Glu
NM_001164280.1:c.742C>G	NP_001157752.1:p.Gln248Glu
NM_001467.5:c.742C>G	NP_001458.1:p.Gln248Glu
NM_001164278.2:c.742C>G	NP_001157750.1:p.Gln248Glu
NM_001164279.2:c.523C>G	NP_001157751.1:p.Gln175Glu
NM_001164280.2:c.742C>G	NP_001157752.1:p.Gln248Glu
NM_001467.6:c.742C>G	NP_001458.1:p.Gln248Glu
NM_001164277.2:c.742C>G MANE Select	NP_001157749.1:p.Gln248Glu