Canonical Allele Identifier: CA382907995

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 555920
• ClinVar RCV Id: RCV000671840
• dbSNP Id: rs1555191832
• MyVariant Identifiers: chr11:g.118899940T>C (hg19) ; chr11:g.119029230T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119029230T>C , CM000673.2:g.119029230T>C	GRCh38
NC_000011.9:g.118899940T>C , CM000673.1:g.118899940T>C	GRCh37
NC_000011.8:g.118405150T>C	NCBI36
NG_013331.1:g.6677A>G , LRG_187:g.6677A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.369A>G
ENST00000697846.1:n.369A>G
ENST00000697847.1:n.369A>G
ENST00000697848.1:n.369A>G
ENST00000697849.1:n.613A>G
ENST00000697850.1:n.369A>G
ENST00000697851.1:n.613A>G
ENST00000638186.1:n.443A>G
ENST00000638360.1:n.377A>G
ENST00000638925.1:n.376A>G
ENST00000650539.1:n.545A>G
ENST00000330775.9:c.140A>G	ENSP00000476242.2:p.Asp47Gly
ENST00000357590.9:c.140A>G	ENSP00000476176.2:p.Asp47Gly
ENST00000524428.5:n.140A>G
ENST00000525039.5:n.563A>G
ENST00000525102.5:n.897A>G
ENST00000525372.5:n.140A>G
ENST00000525787.1:n.435A>G
ENST00000526626.6:n.335A>G
ENST00000527992.5:n.367A>G
ENST00000529510.5:n.158A>G
ENST00000530407.5:n.197+162A>G
ENST00000532085.1:n.1634A>G
ENST00000532888.6:n.335A>G
ENST00000534384.1:n.360A>G
ENST00000538950.5:c.-172+162A>G	ENSP00000475991.2:n.-172+162A>G
ENST00000545985.5:c.140A>G	ENSP00000475241.2:p.Asp47Gly
NM_001164277.1:c.140A>G , LRG_187t1:c.140A>G	NP_001157749.1:p.Asp47Gly
NM_001164278.1:c.140A>G	NP_001157750.1:p.Asp47Gly
NM_001164279.1:c.-172+162A>G	NP_001157751.1:n.-172+162A>G
NM_001164280.1:c.140A>G	NP_001157752.1:p.Asp47Gly
NM_001467.5:c.140A>G	NP_001458.1:p.Asp47Gly
NM_001164278.2:c.140A>G	NP_001157750.1:p.Asp47Gly
NM_001164279.2:c.-172+162A>G	NP_001157751.1:n.-172+162A>G
NM_001164280.2:c.140A>G	NP_001157752.1:p.Asp47Gly
NM_001467.6:c.140A>G	NP_001458.1:p.Asp47Gly
NM_001164277.2:c.140A>G MANE Select	NP_001157749.1:p.Asp47Gly