Canonical Allele Identifier: CA219334
Gene: SLC37A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 68285
dbSNP Id: rs193302888

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119027681G>A , CM000673.2:g.119027681G>A GRCh38
NC_000011.9:g.118898391G>A , CM000673.1:g.118898391G>A GRCh37
NC_000011.8:g.118403601G>A NCBI36
NG_013331.1:g.8225C>T , LRG_187:g.8225C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000529510.6:n.802C>T
ENST00000697845.1:n.726C>T
ENST00000697846.1:n.802C>T
ENST00000697847.1:n.802C>T
ENST00000697848.1:n.802C>T
ENST00000697849.1:n.1841C>T
ENST00000697850.1:n.802C>T
ENST00000697851.1:n.2162C>T
ENST00000638186.1:n.876C>T
ENST00000638360.1:n.708C>T
ENST00000638925.1:n.809C>T
ENST00000650539.1:n.978C>T
ENST00000330775.9:c.572C>T ENSP00000476242.2:p.Pro191Leu
ENST00000357590.9:c.572C>T ENSP00000476176.2:p.Pro191Leu
ENST00000524428.5:n.894C>T
ENST00000525039.5:n.996C>T
ENST00000525102.5:n.1330C>T
ENST00000525372.5:n.573C>T
ENST00000526275.5:n.1354C>T
ENST00000526626.6:n.535C>T
ENST00000527992.5:n.800C>T
ENST00000529510.5:n.399+513C>T
ENST00000530407.5:n.722C>T
ENST00000532085.1:n.3183C>T
ENST00000532888.6:n.868C>T
ENST00000538950.5:c.353C>T ENSP00000475991.2:p.Pro118Leu
ENST00000545985.5:c.572C>T ENSP00000475241.2:p.Pro191Leu
NM_001164277.1:c.572C>T , LRG_187t1:c.572C>T NP_001157749.1:p.Pro191Leu
NM_001164278.1:c.572C>T NP_001157750.1:p.Pro191Leu
NM_001164279.1:c.353C>T NP_001157751.1:p.Pro118Leu
NM_001164280.1:c.572C>T NP_001157752.1:p.Pro191Leu
NM_001467.5:c.572C>T NP_001458.1:p.Pro191Leu
NM_001164278.2:c.572C>T NP_001157750.1:p.Pro191Leu
NM_001164279.2:c.353C>T NP_001157751.1:p.Pro118Leu
NM_001164280.2:c.572C>T NP_001157752.1:p.Pro191Leu
NM_001467.6:c.572C>T NP_001458.1:p.Pro191Leu
NM_001164277.2:c.572C>T MANE Select NP_001157749.1:p.Pro191Leu