Canonical Allele Identifier: CA382901531
Gene: SLC37A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119027059A>C , CM000673.2:g.119027059A>C GRCh38
NC_000011.9:g.118897769A>C , CM000673.1:g.118897769A>C GRCh37
NC_000011.8:g.118402979A>C NCBI36
NG_013331.1:g.8847T>G , LRG_187:g.8847T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000529510.6:n.892T>G
ENST00000697845.1:n.816T>G
ENST00000697846.1:n.892T>G
ENST00000697847.1:n.892T>G
ENST00000697848.1:n.892T>G
ENST00000697849.1:n.1931T>G
ENST00000697850.1:n.892T>G
ENST00000697851.1:n.2252T>G
ENST00000638186.1:n.966T>G
ENST00000638360.1:n.798T>G
ENST00000638925.1:n.899T>G
ENST00000650539.1:n.1068T>G
ENST00000330775.9:c.662T>G ENSP00000476242.2:p.Leu221Arg
ENST00000357590.9:c.662T>G ENSP00000476176.2:p.Leu221Arg
ENST00000524428.5:n.984T>G
ENST00000525039.5:n.1086T>G
ENST00000525102.5:n.1420T>G
ENST00000525372.5:n.663T>G
ENST00000526275.5:n.1444T>G
ENST00000526626.6:n.625T>G
ENST00000527992.5:n.890T>G
ENST00000529510.5:n.436T>G
ENST00000530407.5:n.812T>G
ENST00000532085.1:n.3273T>G
ENST00000532888.6:n.958T>G
ENST00000538950.5:c.443T>G ENSP00000475991.2:p.Leu148Arg
ENST00000545985.5:c.662T>G ENSP00000475241.2:p.Leu221Arg
NM_001164277.1:c.662T>G , LRG_187t1:c.662T>G NP_001157749.1:p.Leu221Arg
NM_001164278.1:c.662T>G NP_001157750.1:p.Leu221Arg
NM_001164279.1:c.443T>G NP_001157751.1:p.Leu148Arg
NM_001164280.1:c.662T>G NP_001157752.1:p.Leu221Arg
NM_001467.5:c.662T>G NP_001458.1:p.Leu221Arg
NM_001164278.2:c.662T>G NP_001157750.1:p.Leu221Arg
NM_001164279.2:c.443T>G NP_001157751.1:p.Leu148Arg
NM_001164280.2:c.662T>G NP_001157752.1:p.Leu221Arg
NM_001467.6:c.662T>G NP_001458.1:p.Leu221Arg
NM_001164277.2:c.662T>G MANE Select NP_001157749.1:p.Leu221Arg