Canonical Allele Identifier: CA382905382
Gene: SLC37A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 877116
dbSNP Id: rs1280285676

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119028301T>C , CM000673.2:g.119028301T>C GRCh38
NC_000011.9:g.118899011T>C , CM000673.1:g.118899011T>C GRCh37
NC_000011.8:g.118404221T>C NCBI36
NG_013331.1:g.7606A>G , LRG_187:g.7606A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000529510.6:n.503A>G
ENST00000697845.1:n.427A>G
ENST00000697846.1:n.503A>G
ENST00000697847.1:n.503A>G
ENST00000697848.1:n.503A>G
ENST00000697849.1:n.1542A>G
ENST00000697850.1:n.503A>G
ENST00000697851.1:n.1542A>G
ENST00000638186.1:n.577A>G
ENST00000638360.1:n.511A>G
ENST00000638925.1:n.510A>G
ENST00000650539.1:n.679A>G
ENST00000330775.9:c.274A>G ENSP00000476242.2:p.Ile92Val
ENST00000357590.9:c.274A>G ENSP00000476176.2:p.Ile92Val
ENST00000524428.5:n.274A>G
ENST00000525039.5:n.697A>G
ENST00000525102.5:n.1031A>G
ENST00000525372.5:n.274A>G
ENST00000525787.1:n.569A>G
ENST00000526275.5:n.734A>G
ENST00000526626.6:n.344-429A>G
ENST00000527992.5:n.501A>G
ENST00000529510.5:n.292A>G
ENST00000530407.5:n.423A>G
ENST00000532085.1:n.2563A>G
ENST00000532888.6:n.569A>G
ENST00000534384.1:n.494A>G
ENST00000538950.5:c.55A>G ENSP00000475991.2:p.Ile19Val
ENST00000545985.5:c.274A>G ENSP00000475241.2:p.Ile92Val
NM_001164277.1:c.274A>G , LRG_187t1:c.274A>G NP_001157749.1:p.Ile92Val
NM_001164278.1:c.274A>G NP_001157750.1:p.Ile92Val
NM_001164279.1:c.55A>G NP_001157751.1:p.Ile19Val
NM_001164280.1:c.274A>G NP_001157752.1:p.Ile92Val
NM_001467.5:c.274A>G NP_001458.1:p.Ile92Val
NM_001164278.2:c.274A>G NP_001157750.1:p.Ile92Val
NM_001164279.2:c.55A>G NP_001157751.1:p.Ile19Val
NM_001164280.2:c.274A>G NP_001157752.1:p.Ile92Val
NM_001467.6:c.274A>G NP_001458.1:p.Ile92Val
NM_001164277.2:c.274A>G MANE Select NP_001157749.1:p.Ile92Val