Canonical Allele Identifier: CA382902100
Gene: SLC37A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119027684T>A , CM000673.2:g.119027684T>A GRCh38
NC_000011.9:g.118898394T>A , CM000673.1:g.118898394T>A GRCh37
NC_000011.8:g.118403604T>A NCBI36
NG_013331.1:g.8222A>T , LRG_187:g.8222A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000529510.6:n.799A>T
ENST00000697845.1:n.723A>T
ENST00000697846.1:n.799A>T
ENST00000697847.1:n.799A>T
ENST00000697848.1:n.799A>T
ENST00000697849.1:n.1838A>T
ENST00000697850.1:n.799A>T
ENST00000697851.1:n.2159A>T
ENST00000638186.1:n.873A>T
ENST00000638360.1:n.705A>T
ENST00000638925.1:n.806A>T
ENST00000650539.1:n.975A>T
ENST00000330775.9:c.569A>T ENSP00000476242.2:p.Glu190Val
ENST00000357590.9:c.569A>T ENSP00000476176.2:p.Glu190Val
ENST00000524428.5:n.891A>T
ENST00000525039.5:n.993A>T
ENST00000525102.5:n.1327A>T
ENST00000525372.5:n.570A>T
ENST00000526275.5:n.1351A>T
ENST00000526626.6:n.532A>T
ENST00000527992.5:n.797A>T
ENST00000529510.5:n.399+510A>T
ENST00000530407.5:n.719A>T
ENST00000532085.1:n.3180A>T
ENST00000532888.6:n.865A>T
ENST00000538950.5:c.350A>T ENSP00000475991.2:p.Glu117Val
ENST00000545985.5:c.569A>T ENSP00000475241.2:p.Glu190Val
NM_001164277.1:c.569A>T , LRG_187t1:c.569A>T NP_001157749.1:p.Glu190Val
NM_001164278.1:c.569A>T NP_001157750.1:p.Glu190Val
NM_001164279.1:c.350A>T NP_001157751.1:p.Glu117Val
NM_001164280.1:c.569A>T NP_001157752.1:p.Glu190Val
NM_001467.5:c.569A>T NP_001458.1:p.Glu190Val
NM_001164278.2:c.569A>T NP_001157750.1:p.Glu190Val
NM_001164279.2:c.350A>T NP_001157751.1:p.Glu117Val
NM_001164280.2:c.569A>T NP_001157752.1:p.Glu190Val
NM_001467.6:c.569A>T NP_001458.1:p.Glu190Val
NM_001164277.2:c.569A>T MANE Select NP_001157749.1:p.Glu190Val