Canonical Allele Identifier: CA382902187

Gene: SLC37A4

Linked Data

• MyVariant Identifiers: chr11:g.118898407G>C (hg19) ; chr11:g.119027697G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027697G>C , CM000673.2:g.119027697G>C	GRCh38
NC_000011.9:g.118898407G>C , CM000673.1:g.118898407G>C	GRCh37
NC_000011.8:g.118403617G>C	NCBI36
NG_013331.1:g.8209C>G , LRG_187:g.8209C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.786C>G
ENST00000697845.1:n.710C>G
ENST00000697846.1:n.786C>G
ENST00000697847.1:n.786C>G
ENST00000697848.1:n.786C>G
ENST00000697849.1:n.1825C>G
ENST00000697850.1:n.786C>G
ENST00000697851.1:n.2146C>G
ENST00000638186.1:n.860C>G
ENST00000638360.1:n.692C>G
ENST00000638925.1:n.793C>G
ENST00000650539.1:n.962C>G
ENST00000330775.9:c.556C>G	ENSP00000476242.2:p.Leu186Val
ENST00000357590.9:c.556C>G	ENSP00000476176.2:p.Leu186Val
ENST00000524428.5:n.878C>G
ENST00000525039.5:n.980C>G
ENST00000525102.5:n.1314C>G
ENST00000525372.5:n.557C>G
ENST00000526275.5:n.1338C>G
ENST00000526626.6:n.519C>G
ENST00000527992.5:n.784C>G
ENST00000529510.5:n.399+497C>G
ENST00000530407.5:n.706C>G
ENST00000532085.1:n.3167C>G
ENST00000532888.6:n.852C>G
ENST00000538950.5:c.337C>G	ENSP00000475991.2:p.Leu113Val
ENST00000545985.5:c.556C>G	ENSP00000475241.2:p.Leu186Val
NM_001164277.1:c.556C>G , LRG_187t1:c.556C>G	NP_001157749.1:p.Leu186Val
NM_001164278.1:c.556C>G	NP_001157750.1:p.Leu186Val
NM_001164279.1:c.337C>G	NP_001157751.1:p.Leu113Val
NM_001164280.1:c.556C>G	NP_001157752.1:p.Leu186Val
NM_001467.5:c.556C>G	NP_001458.1:p.Leu186Val
NM_001164278.2:c.556C>G	NP_001157750.1:p.Leu186Val
NM_001164279.2:c.337C>G	NP_001157751.1:p.Leu113Val
NM_001164280.2:c.556C>G	NP_001157752.1:p.Leu186Val
NM_001467.6:c.556C>G	NP_001458.1:p.Leu186Val
NM_001164277.2:c.556C>G MANE Select	NP_001157749.1:p.Leu186Val