Canonical Allele Identifier: CA382902024

Gene: SLC37A4

Linked Data

• MyVariant Identifiers: chr11:g.118898376A>G (hg19) ; chr11:g.119027666A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027666A>G , CM000673.2:g.119027666A>G	GRCh38
NC_000011.9:g.118898376A>G , CM000673.1:g.118898376A>G	GRCh37
NC_000011.8:g.118403586A>G	NCBI36
NG_013331.1:g.8240T>C , LRG_187:g.8240T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.817T>C
ENST00000697845.1:n.741T>C
ENST00000697846.1:n.817T>C
ENST00000697847.1:n.817T>C
ENST00000697848.1:n.817T>C
ENST00000697849.1:n.1856T>C
ENST00000697850.1:n.817T>C
ENST00000697851.1:n.2177T>C
ENST00000638186.1:n.891T>C
ENST00000638360.1:n.723T>C
ENST00000638925.1:n.824T>C
ENST00000650539.1:n.993T>C
ENST00000330775.9:c.587T>C	ENSP00000476242.2:p.Leu196Pro
ENST00000357590.9:c.587T>C	ENSP00000476176.2:p.Leu196Pro
ENST00000524428.5:n.909T>C
ENST00000525039.5:n.1011T>C
ENST00000525102.5:n.1345T>C
ENST00000525372.5:n.588T>C
ENST00000526275.5:n.1369T>C
ENST00000526626.6:n.550T>C
ENST00000527992.5:n.815T>C
ENST00000529510.5:n.399+528T>C
ENST00000530407.5:n.737T>C
ENST00000532085.1:n.3198T>C
ENST00000532888.6:n.883T>C
ENST00000538950.5:c.368T>C	ENSP00000475991.2:p.Leu123Pro
ENST00000545985.5:c.587T>C	ENSP00000475241.2:p.Leu196Pro
NM_001164277.1:c.587T>C , LRG_187t1:c.587T>C	NP_001157749.1:p.Leu196Pro
NM_001164278.1:c.587T>C	NP_001157750.1:p.Leu196Pro
NM_001164279.1:c.368T>C	NP_001157751.1:p.Leu123Pro
NM_001164280.1:c.587T>C	NP_001157752.1:p.Leu196Pro
NM_001467.5:c.587T>C	NP_001458.1:p.Leu196Pro
NM_001164278.2:c.587T>C	NP_001157750.1:p.Leu196Pro
NM_001164279.2:c.368T>C	NP_001157751.1:p.Leu123Pro
NM_001164280.2:c.587T>C	NP_001157752.1:p.Leu196Pro
NM_001467.6:c.587T>C	NP_001458.1:p.Leu196Pro
NM_001164277.2:c.587T>C MANE Select	NP_001157749.1:p.Leu196Pro