Canonical Allele Identifier: CA477125910
Gene: SLC37A4 HGNC NCBI

Linked Data

dbSNP Id: rs1943590147
MyVariant Identifiers: chr11:g.118897765C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119027055C>T , CM000673.2:g.119027055C>T GRCh38
NC_000011.9:g.118897765C>T , CM000673.1:g.118897765C>T GRCh37
NC_000011.8:g.118402975C>T NCBI36
NG_013331.1:g.8851G>A , LRG_187:g.8851G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000529510.6:n.896G>A
ENST00000697845.1:n.820G>A
ENST00000697846.1:n.896G>A
ENST00000697847.1:n.896G>A
ENST00000697848.1:n.896G>A
ENST00000697849.1:n.1935G>A
ENST00000697850.1:n.896G>A
ENST00000697851.1:n.2256G>A
ENST00000638186.1:n.970G>A
ENST00000638360.1:n.802G>A
ENST00000638925.1:n.903G>A
ENST00000650539.1:n.1072G>A
ENST00000330775.9:c.666G>A ENSP00000476242.2:p.Leu222=
ENST00000357590.9:c.666G>A ENSP00000476176.2:p.Leu222=
ENST00000524428.5:n.988G>A
ENST00000525039.5:n.1090G>A
ENST00000525102.5:n.1424G>A
ENST00000525372.5:n.667G>A
ENST00000526275.5:n.1448G>A
ENST00000526626.6:n.629G>A
ENST00000527992.5:n.894G>A
ENST00000529510.5:n.440G>A
ENST00000530407.5:n.816G>A
ENST00000532085.1:n.3277G>A
ENST00000532888.6:n.962G>A
ENST00000538950.5:c.447G>A ENSP00000475991.2:p.Leu149=
ENST00000545985.5:c.666G>A ENSP00000475241.2:p.Leu222=
NM_001164277.1:c.666G>A , LRG_187t1:c.666G>A NP_001157749.1:p.Leu222=
NM_001164278.1:c.666G>A NP_001157750.1:p.Leu222=
NM_001164279.1:c.447G>A NP_001157751.1:p.Leu149=
NM_001164280.1:c.666G>A NP_001157752.1:p.Leu222=
NM_001467.5:c.666G>A NP_001458.1:p.Leu222=
NM_001164278.2:c.666G>A NP_001157750.1:p.Leu222=
NM_001164279.2:c.447G>A NP_001157751.1:p.Leu149=
NM_001164280.2:c.666G>A NP_001157752.1:p.Leu222=
NM_001467.6:c.666G>A NP_001458.1:p.Leu222=
NM_001164277.2:c.666G>A MANE Select NP_001157749.1:p.Leu222=