Canonical Allele Identifier: CA382903785

Gene: SLC37A4

Linked Data

• gnomAD v4: 11-119027838-G-A
• MyVariant Identifiers: chr11:g.118898548G>A (hg19) ; chr11:g.119027838G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027838G>A , CM000673.2:g.119027838G>A	GRCh38
NC_000011.9:g.118898548G>A , CM000673.1:g.118898548G>A	GRCh37
NC_000011.8:g.118403758G>A	NCBI36
NG_013331.1:g.8069C>T , LRG_187:g.8069C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.645C>T
ENST00000697845.1:n.569C>T
ENST00000697846.1:n.645C>T
ENST00000697847.1:n.645C>T
ENST00000697848.1:n.645C>T
ENST00000697849.1:n.1684C>T
ENST00000697850.1:n.645C>T
ENST00000697851.1:n.2005C>T
ENST00000638186.1:n.719C>T
ENST00000638360.1:n.619-68C>T
ENST00000638925.1:n.652C>T
ENST00000650539.1:n.821C>T
ENST00000330775.9:c.416C>T	ENSP00000476242.2:p.Ala139Val
ENST00000357590.9:c.416C>T	ENSP00000476176.2:p.Ala139Val
ENST00000524428.5:n.737C>T
ENST00000525039.5:n.839C>T
ENST00000525102.5:n.1173C>T
ENST00000525372.5:n.416C>T
ENST00000525787.1:n.1032C>T
ENST00000526275.5:n.1197C>T
ENST00000526626.6:n.378C>T
ENST00000527992.5:n.643C>T
ENST00000529510.5:n.399+356C>T
ENST00000530407.5:n.565C>T
ENST00000532085.1:n.3026C>T
ENST00000532888.6:n.711C>T
ENST00000538950.5:c.197C>T	ENSP00000475991.2:p.Ala66Val
ENST00000545985.5:c.416C>T	ENSP00000475241.2:p.Ala139Val
NM_001164277.1:c.416C>T , LRG_187t1:c.416C>T	NP_001157749.1:p.Ala139Val
NM_001164278.1:c.416C>T	NP_001157750.1:p.Ala139Val
NM_001164279.1:c.197C>T	NP_001157751.1:p.Ala66Val
NM_001164280.1:c.416C>T	NP_001157752.1:p.Ala139Val
NM_001467.5:c.416C>T	NP_001458.1:p.Ala139Val
NM_001164278.2:c.416C>T	NP_001157750.1:p.Ala139Val
NM_001164279.2:c.197C>T	NP_001157751.1:p.Ala66Val
NM_001164280.2:c.416C>T	NP_001157752.1:p.Ala139Val
NM_001467.6:c.416C>T	NP_001458.1:p.Ala139Val
NM_001164277.2:c.416C>T MANE Select	NP_001157749.1:p.Ala139Val