Canonical Allele Identifier: CA477125914
Gene: SLC37A4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.118897768C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119027058C>A , CM000673.2:g.119027058C>A GRCh38
NC_000011.9:g.118897768C>A , CM000673.1:g.118897768C>A GRCh37
NC_000011.8:g.118402978C>A NCBI36
NG_013331.1:g.8848G>T , LRG_187:g.8848G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000529510.6:n.893G>T
ENST00000697845.1:n.817G>T
ENST00000697846.1:n.893G>T
ENST00000697847.1:n.893G>T
ENST00000697848.1:n.893G>T
ENST00000697849.1:n.1932G>T
ENST00000697850.1:n.893G>T
ENST00000697851.1:n.2253G>T
ENST00000638186.1:n.967G>T
ENST00000638360.1:n.799G>T
ENST00000638925.1:n.900G>T
ENST00000650539.1:n.1069G>T
ENST00000330775.9:c.663G>T ENSP00000476242.2:p.Leu221=
ENST00000357590.9:c.663G>T ENSP00000476176.2:p.Leu221=
ENST00000524428.5:n.985G>T
ENST00000525039.5:n.1087G>T
ENST00000525102.5:n.1421G>T
ENST00000525372.5:n.664G>T
ENST00000526275.5:n.1445G>T
ENST00000526626.6:n.626G>T
ENST00000527992.5:n.891G>T
ENST00000529510.5:n.437G>T
ENST00000530407.5:n.813G>T
ENST00000532085.1:n.3274G>T
ENST00000532888.6:n.959G>T
ENST00000538950.5:c.444G>T ENSP00000475991.2:p.Leu148=
ENST00000545985.5:c.663G>T ENSP00000475241.2:p.Leu221=
NM_001164277.1:c.663G>T , LRG_187t1:c.663G>T NP_001157749.1:p.Leu221=
NM_001164278.1:c.663G>T NP_001157750.1:p.Leu221=
NM_001164279.1:c.444G>T NP_001157751.1:p.Leu148=
NM_001164280.1:c.663G>T NP_001157752.1:p.Leu221=
NM_001467.5:c.663G>T NP_001458.1:p.Leu221=
NM_001164278.2:c.663G>T NP_001157750.1:p.Leu221=
NM_001164279.2:c.444G>T NP_001157751.1:p.Leu148=
NM_001164280.2:c.663G>T NP_001157752.1:p.Leu221=
NM_001467.6:c.663G>T NP_001458.1:p.Leu221=
NM_001164277.2:c.663G>T MANE Select NP_001157749.1:p.Leu221=