Canonical Allele Identifier: CA219343
Gene: SLC37A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 68288
dbSNP Id: rs193302887

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119029300A>G , CM000673.2:g.119029300A>G GRCh38
NC_000011.9:g.118900010A>G , CM000673.1:g.118900010A>G GRCh37
NC_000011.8:g.118405220A>G NCBI36
NG_013331.1:g.6607T>C , LRG_187:g.6607T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000529510.6:n.299T>C
ENST00000697846.1:n.299T>C
ENST00000697847.1:n.299T>C
ENST00000697848.1:n.299T>C
ENST00000697849.1:n.543T>C
ENST00000697850.1:n.299T>C
ENST00000697851.1:n.543T>C
ENST00000638186.1:n.373T>C
ENST00000638360.1:n.307T>C
ENST00000638925.1:n.306T>C
ENST00000650539.1:n.475T>C
ENST00000330775.9:c.70T>C ENSP00000476242.2:p.Tyr24His
ENST00000357590.9:c.70T>C ENSP00000476176.2:p.Tyr24His
ENST00000524428.5:n.70T>C
ENST00000525039.5:n.493T>C
ENST00000525102.5:n.827T>C
ENST00000525372.5:n.70T>C
ENST00000525787.1:n.365T>C
ENST00000526626.6:n.265T>C
ENST00000527992.5:n.297T>C
ENST00000529510.5:n.88T>C
ENST00000530407.5:n.197+92T>C
ENST00000532085.1:n.1564T>C
ENST00000532888.6:n.265T>C
ENST00000534384.1:n.290T>C
ENST00000538950.5:c.-172+92T>C ENSP00000475991.2:n.-172+92T>C
ENST00000545985.5:c.70T>C ENSP00000475241.2:p.Tyr24His
NM_001164277.1:c.70T>C , LRG_187t1:c.70T>C NP_001157749.1:p.Tyr24His
NM_001164278.1:c.70T>C NP_001157750.1:p.Tyr24His
NM_001164279.1:c.-172+92T>C NP_001157751.1:n.-172+92T>C
NM_001164280.1:c.70T>C NP_001157752.1:p.Tyr24His
NM_001467.5:c.70T>C NP_001458.1:p.Tyr24His
NM_001164278.2:c.70T>C NP_001157750.1:p.Tyr24His
NM_001164279.2:c.-172+92T>C NP_001157751.1:n.-172+92T>C
NM_001164280.2:c.70T>C NP_001157752.1:p.Tyr24His
NM_001467.6:c.70T>C NP_001458.1:p.Tyr24His
NM_001164277.2:c.70T>C MANE Select NP_001157749.1:p.Tyr24His