Canonical Allele Identifier: CA382901791

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 6936
• ClinVar RCV Id: RCV000007348
• dbSNP Id: rs1272300904
• gnomAD v4: 11-119027628-C-T
• MyVariant Identifiers: chr11:g.118898338C>T (hg19) ; chr11:g.119027628C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027628C>T , CM000673.2:g.119027628C>T	GRCh38
NC_000011.9:g.118898338C>T , CM000673.1:g.118898338C>T	GRCh37
NC_000011.8:g.118403548C>T	NCBI36
NG_013331.1:g.8278G>A , LRG_187:g.8278G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.855G>A
ENST00000697845.1:n.779G>A
ENST00000697846.1:n.855G>A
ENST00000697847.1:n.855G>A
ENST00000697848.1:n.855G>A
ENST00000697849.1:n.1894G>A
ENST00000697850.1:n.855G>A
ENST00000697851.1:n.2215G>A
ENST00000638186.1:n.929G>A
ENST00000638360.1:n.761G>A
ENST00000638925.1:n.862G>A
ENST00000650539.1:n.1031G>A
ENST00000330775.9:c.625G>A	ENSP00000476242.2:p.Gly209Ser
ENST00000357590.9:c.625G>A	ENSP00000476176.2:p.Gly209Ser
ENST00000524428.5:n.947G>A
ENST00000525039.5:n.1049G>A
ENST00000525102.5:n.1383G>A
ENST00000525372.5:n.626G>A
ENST00000526275.5:n.1407G>A
ENST00000526626.6:n.588G>A
ENST00000527992.5:n.853G>A
ENST00000529510.5:n.400-533G>A
ENST00000530407.5:n.775G>A
ENST00000532085.1:n.3236G>A
ENST00000532888.6:n.921G>A
ENST00000538950.5:c.406G>A	ENSP00000475991.2:p.Gly136Ser
ENST00000545985.5:c.625G>A	ENSP00000475241.2:p.Gly209Ser
NM_001164277.1:c.625G>A , LRG_187t1:c.625G>A	NP_001157749.1:p.Gly209Ser
NM_001164278.1:c.625G>A	NP_001157750.1:p.Gly209Ser
NM_001164279.1:c.406G>A	NP_001157751.1:p.Gly136Ser
NM_001164280.1:c.625G>A	NP_001157752.1:p.Gly209Ser
NM_001467.5:c.625G>A	NP_001458.1:p.Gly209Ser
NM_001164278.2:c.625G>A	NP_001157750.1:p.Gly209Ser
NM_001164279.2:c.406G>A	NP_001157751.1:p.Gly136Ser
NM_001164280.2:c.625G>A	NP_001157752.1:p.Gly209Ser
NM_001467.6:c.625G>A	NP_001458.1:p.Gly209Ser
NM_001164277.2:c.625G>A MANE Select	NP_001157749.1:p.Gly209Ser