Canonical Allele Identifier: CA219340

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 68287
• ClinVar RCV Id: RCV000059138
• dbSNP Id: rs193302902
• gnomAD v3: 11-119027035-A-G
• gnomAD v4: 11-119027035-A-G
• MyVariant Identifiers: chr11:g.118897745A>G (hg19) ; chr11:g.119027035A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027035A>G , CM000673.2:g.119027035A>G	GRCh38
NC_000011.9:g.118897745A>G , CM000673.1:g.118897745A>G	GRCh37
NC_000011.8:g.118402955A>G	NCBI36
NG_013331.1:g.8871T>C , LRG_187:g.8871T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.916T>C
ENST00000697845.1:n.840T>C
ENST00000697846.1:n.916T>C
ENST00000697847.1:n.916T>C
ENST00000697848.1:n.916T>C
ENST00000697849.1:n.1955T>C
ENST00000697850.1:n.916T>C
ENST00000697851.1:n.2276T>C
ENST00000638186.1:n.990T>C
ENST00000638360.1:n.822T>C
ENST00000638925.1:n.923T>C
ENST00000650539.1:n.1092T>C
ENST00000330775.9:c.686T>C	ENSP00000476242.2:p.Leu229Pro
ENST00000357590.9:c.686T>C	ENSP00000476176.2:p.Leu229Pro
ENST00000524428.5:n.1008T>C
ENST00000525039.5:n.1110T>C
ENST00000525102.5:n.1444T>C
ENST00000525372.5:n.687T>C
ENST00000526275.5:n.1468T>C
ENST00000526626.6:n.649T>C
ENST00000527992.5:n.914T>C
ENST00000529510.5:n.460T>C
ENST00000530407.5:n.836T>C
ENST00000532085.1:n.3297T>C
ENST00000532888.6:n.982T>C
ENST00000538950.5:c.467T>C	ENSP00000475991.2:p.Leu156Pro
ENST00000545985.5:c.686T>C	ENSP00000475241.2:p.Leu229Pro
NM_001164277.1:c.686T>C , LRG_187t1:c.686T>C	NP_001157749.1:p.Leu229Pro
NM_001164278.1:c.686T>C	NP_001157750.1:p.Leu229Pro
NM_001164279.1:c.467T>C	NP_001157751.1:p.Leu156Pro
NM_001164280.1:c.686T>C	NP_001157752.1:p.Leu229Pro
NM_001467.5:c.686T>C	NP_001458.1:p.Leu229Pro
NM_001164278.2:c.686T>C	NP_001157750.1:p.Leu229Pro
NM_001164279.2:c.467T>C	NP_001157751.1:p.Leu156Pro
NM_001164280.2:c.686T>C	NP_001157752.1:p.Leu229Pro
NM_001467.6:c.686T>C	NP_001458.1:p.Leu229Pro
NM_001164277.2:c.686T>C MANE Select	NP_001157749.1:p.Leu229Pro