Canonical Allele Identifier: CA382902027

Gene: SLC37A4

Linked Data

• dbSNP Id: rs1943613120
• MyVariant Identifiers: chr11:g.118898377G>A (hg19) ; chr11:g.119027667G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027667G>A , CM000673.2:g.119027667G>A	GRCh38
NC_000011.9:g.118898377G>A , CM000673.1:g.118898377G>A	GRCh37
NC_000011.8:g.118403587G>A	NCBI36
NG_013331.1:g.8239C>T , LRG_187:g.8239C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.816C>T
ENST00000697845.1:n.740C>T
ENST00000697846.1:n.816C>T
ENST00000697847.1:n.816C>T
ENST00000697848.1:n.816C>T
ENST00000697849.1:n.1855C>T
ENST00000697850.1:n.816C>T
ENST00000697851.1:n.2176C>T
ENST00000638186.1:n.890C>T
ENST00000638360.1:n.722C>T
ENST00000638925.1:n.823C>T
ENST00000650539.1:n.992C>T
ENST00000330775.9:c.586C>T	ENSP00000476242.2:p.Leu196Phe
ENST00000357590.9:c.586C>T	ENSP00000476176.2:p.Leu196Phe
ENST00000524428.5:n.908C>T
ENST00000525039.5:n.1010C>T
ENST00000525102.5:n.1344C>T
ENST00000525372.5:n.587C>T
ENST00000526275.5:n.1368C>T
ENST00000526626.6:n.549C>T
ENST00000527992.5:n.814C>T
ENST00000529510.5:n.399+527C>T
ENST00000530407.5:n.736C>T
ENST00000532085.1:n.3197C>T
ENST00000532888.6:n.882C>T
ENST00000538950.5:c.367C>T	ENSP00000475991.2:p.Leu123Phe
ENST00000545985.5:c.586C>T	ENSP00000475241.2:p.Leu196Phe
NM_001164277.1:c.586C>T , LRG_187t1:c.586C>T	NP_001157749.1:p.Leu196Phe
NM_001164278.1:c.586C>T	NP_001157750.1:p.Leu196Phe
NM_001164279.1:c.367C>T	NP_001157751.1:p.Leu123Phe
NM_001164280.1:c.586C>T	NP_001157752.1:p.Leu196Phe
NM_001467.5:c.586C>T	NP_001458.1:p.Leu196Phe
NM_001164278.2:c.586C>T	NP_001157750.1:p.Leu196Phe
NM_001164279.2:c.367C>T	NP_001157751.1:p.Leu123Phe
NM_001164280.2:c.586C>T	NP_001157752.1:p.Leu196Phe
NM_001467.6:c.586C>T	NP_001458.1:p.Leu196Phe
NM_001164277.2:c.586C>T MANE Select	NP_001157749.1:p.Leu196Phe