Canonical Allele Identifier: CA382903818

Gene: SLC37A4

Linked Data

• gnomAD v4: 11-119027839-C-T
• MyVariant Identifiers: chr11:g.118898549C>T (hg19) ; chr11:g.119027839C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027839C>T , CM000673.2:g.119027839C>T	GRCh38
NC_000011.9:g.118898549C>T , CM000673.1:g.118898549C>T	GRCh37
NC_000011.8:g.118403759C>T	NCBI36
NG_013331.1:g.8068G>A , LRG_187:g.8068G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.644G>A
ENST00000697845.1:n.568G>A
ENST00000697846.1:n.644G>A
ENST00000697847.1:n.644G>A
ENST00000697848.1:n.644G>A
ENST00000697849.1:n.1683G>A
ENST00000697850.1:n.644G>A
ENST00000697851.1:n.2004G>A
ENST00000638186.1:n.718G>A
ENST00000638360.1:n.619-69G>A
ENST00000638925.1:n.651G>A
ENST00000650539.1:n.820G>A
ENST00000330775.9:c.415G>A	ENSP00000476242.2:p.Ala139Thr
ENST00000357590.9:c.415G>A	ENSP00000476176.2:p.Ala139Thr
ENST00000524428.5:n.736G>A
ENST00000525039.5:n.838G>A
ENST00000525102.5:n.1172G>A
ENST00000525372.5:n.415G>A
ENST00000525787.1:n.1031G>A
ENST00000526275.5:n.1196G>A
ENST00000526626.6:n.377G>A
ENST00000527992.5:n.642G>A
ENST00000529510.5:n.399+355G>A
ENST00000530407.5:n.564G>A
ENST00000532085.1:n.3025G>A
ENST00000532888.6:n.710G>A
ENST00000538950.5:c.196G>A	ENSP00000475991.2:p.Ala66Thr
ENST00000545985.5:c.415G>A	ENSP00000475241.2:p.Ala139Thr
NM_001164277.1:c.415G>A , LRG_187t1:c.415G>A	NP_001157749.1:p.Ala139Thr
NM_001164278.1:c.415G>A	NP_001157750.1:p.Ala139Thr
NM_001164279.1:c.196G>A	NP_001157751.1:p.Ala66Thr
NM_001164280.1:c.415G>A	NP_001157752.1:p.Ala139Thr
NM_001467.5:c.415G>A	NP_001458.1:p.Ala139Thr
NM_001164278.2:c.415G>A	NP_001157750.1:p.Ala139Thr
NM_001164279.2:c.196G>A	NP_001157751.1:p.Ala66Thr
NM_001164280.2:c.415G>A	NP_001157752.1:p.Ala139Thr
NM_001467.6:c.415G>A	NP_001458.1:p.Ala139Thr
NM_001164277.2:c.415G>A MANE Select	NP_001157749.1:p.Ala139Thr