Canonical Allele Identifier: CA382908363

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 550340
• ClinVar RCV Id: RCV000665062
• dbSNP Id: rs1555191848
• MyVariant Identifiers: chr11:g.118899981A>C (hg19) ; chr11:g.119029271A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119029271A>C , CM000673.2:g.119029271A>C	GRCh38
NC_000011.9:g.118899981A>C , CM000673.1:g.118899981A>C	GRCh37
NC_000011.8:g.118405191A>C	NCBI36
NG_013331.1:g.6636T>G , LRG_187:g.6636T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.328T>G
ENST00000697846.1:n.328T>G
ENST00000697847.1:n.328T>G
ENST00000697848.1:n.328T>G
ENST00000697849.1:n.572T>G
ENST00000697850.1:n.328T>G
ENST00000697851.1:n.572T>G
ENST00000638186.1:n.402T>G
ENST00000638360.1:n.336T>G
ENST00000638925.1:n.335T>G
ENST00000650539.1:n.504T>G
ENST00000330775.9:c.99T>G	ENSP00000476242.2:p.Phe33Leu
ENST00000357590.9:c.99T>G	ENSP00000476176.2:p.Phe33Leu
ENST00000524428.5:n.99T>G
ENST00000525039.5:n.522T>G
ENST00000525102.5:n.856T>G
ENST00000525372.5:n.99T>G
ENST00000525787.1:n.394T>G
ENST00000526626.6:n.294T>G
ENST00000527992.5:n.326T>G
ENST00000529510.5:n.117T>G
ENST00000530407.5:n.197+121T>G
ENST00000532085.1:n.1593T>G
ENST00000532888.6:n.294T>G
ENST00000534384.1:n.319T>G
ENST00000538950.5:c.-172+121T>G	ENSP00000475991.2:n.-172+121T>G
ENST00000545985.5:c.99T>G	ENSP00000475241.2:p.Phe33Leu
NM_001164277.1:c.99T>G , LRG_187t1:c.99T>G	NP_001157749.1:p.Phe33Leu
NM_001164278.1:c.99T>G	NP_001157750.1:p.Phe33Leu
NM_001164279.1:c.-172+121T>G	NP_001157751.1:n.-172+121T>G
NM_001164280.1:c.99T>G	NP_001157752.1:p.Phe33Leu
NM_001467.5:c.99T>G	NP_001458.1:p.Phe33Leu
NM_001164278.2:c.99T>G	NP_001157750.1:p.Phe33Leu
NM_001164279.2:c.-172+121T>G	NP_001157751.1:n.-172+121T>G
NM_001164280.2:c.99T>G	NP_001157752.1:p.Phe33Leu
NM_001467.6:c.99T>G	NP_001458.1:p.Phe33Leu
NM_001164277.2:c.99T>G MANE Select	NP_001157749.1:p.Phe33Leu