Canonical Allele Identifier: CA382898184

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 556518
• ClinVar RCV Id: RCV000672537
• dbSNP Id: rs1555190769
• gnomAD v4: 11-119026074-G-T
• MyVariant Identifiers: chr11:g.118896784G>T (hg19) ; chr11:g.119026074G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026074G>T , CM000673.2:g.119026074G>T	GRCh38
NC_000011.9:g.118896784G>T , CM000673.1:g.118896784G>T	GRCh37
NC_000011.8:g.118401994G>T	NCBI36
NG_013331.1:g.9832C>A , LRG_187:g.9832C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1021C>A
ENST00000697845.1:n.1801C>A
ENST00000697846.1:n.1021C>A
ENST00000697847.1:n.1202-317C>A
ENST00000697848.1:n.1107C>A
ENST00000697849.1:n.2916C>A
ENST00000697850.1:n.1107C>A
ENST00000697851.1:n.2715C>A
ENST00000638186.1:n.1181C>A
ENST00000638360.1:n.1013C>A
ENST00000638925.1:n.1146C>A
ENST00000650539.1:n.1283C>A
ENST00000330775.9:c.877C>A	ENSP00000476242.2:p.Leu293Met
ENST00000357590.9:c.877C>A	ENSP00000476176.2:p.Leu293Met
ENST00000524428.5:n.1113C>A
ENST00000525039.5:n.1301C>A
ENST00000525102.5:n.1635C>A
ENST00000525372.5:n.975C>A
ENST00000526275.5:n.1659C>A
ENST00000527992.5:n.1105C>A
ENST00000529510.5:n.565C>A
ENST00000530407.5:n.1027C>A
ENST00000532085.1:n.4258C>A
ENST00000538950.5:c.658C>A	ENSP00000475991.2:p.Leu220Met
ENST00000545985.5:c.877C>A	ENSP00000475241.2:p.Leu293Met
NM_001164277.1:c.877C>A , LRG_187t1:c.877C>A	NP_001157749.1:p.Leu293Met
NM_001164278.1:c.877C>A	NP_001157750.1:p.Leu293Met
NM_001164279.1:c.658C>A	NP_001157751.1:p.Leu220Met
NM_001164280.1:c.877C>A	NP_001157752.1:p.Leu293Met
NM_001467.5:c.877C>A	NP_001458.1:p.Leu293Met
NM_001164278.2:c.877C>A	NP_001157750.1:p.Leu293Met
NM_001164279.2:c.658C>A	NP_001157751.1:p.Leu220Met
NM_001164280.2:c.877C>A	NP_001157752.1:p.Leu293Met
NM_001467.6:c.877C>A	NP_001458.1:p.Leu293Met
NM_001164277.2:c.877C>A MANE Select	NP_001157749.1:p.Leu293Met