Canonical Allele Identifier: CA382903070

Gene: SLC37A4

Linked Data

• gnomAD v4: 11-119027772-T-C
• MyVariant Identifiers: chr11:g.118898482T>C (hg19) ; chr11:g.119027772T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027772T>C , CM000673.2:g.119027772T>C	GRCh38
NC_000011.9:g.118898482T>C , CM000673.1:g.118898482T>C	GRCh37
NC_000011.8:g.118403692T>C	NCBI36
NG_013331.1:g.8135A>G , LRG_187:g.8135A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.711A>G
ENST00000697845.1:n.635A>G
ENST00000697846.1:n.711A>G
ENST00000697847.1:n.711A>G
ENST00000697848.1:n.711A>G
ENST00000697849.1:n.1750A>G
ENST00000697850.1:n.711A>G
ENST00000697851.1:n.2071A>G
ENST00000638186.1:n.785A>G
ENST00000638360.1:n.619-2A>G
ENST00000638925.1:n.718A>G
ENST00000650539.1:n.887A>G
ENST00000330775.9:c.482A>G	ENSP00000476242.2:p.Gln161Arg
ENST00000357590.9:c.482A>G	ENSP00000476176.2:p.Gln161Arg
ENST00000524428.5:n.803A>G
ENST00000525039.5:n.905A>G
ENST00000525102.5:n.1239A>G
ENST00000525372.5:n.482A>G
ENST00000526275.5:n.1263A>G
ENST00000526626.6:n.444A>G
ENST00000527992.5:n.709A>G
ENST00000529510.5:n.399+422A>G
ENST00000530407.5:n.631A>G
ENST00000532085.1:n.3092A>G
ENST00000532888.6:n.777A>G
ENST00000538950.5:c.263A>G	ENSP00000475991.2:p.Gln88Arg
ENST00000545985.5:c.482A>G	ENSP00000475241.2:p.Gln161Arg
NM_001164277.1:c.482A>G , LRG_187t1:c.482A>G	NP_001157749.1:p.Gln161Arg
NM_001164278.1:c.482A>G	NP_001157750.1:p.Gln161Arg
NM_001164279.1:c.263A>G	NP_001157751.1:p.Gln88Arg
NM_001164280.1:c.482A>G	NP_001157752.1:p.Gln161Arg
NM_001467.5:c.482A>G	NP_001458.1:p.Gln161Arg
NM_001164278.2:c.482A>G	NP_001157750.1:p.Gln161Arg
NM_001164279.2:c.263A>G	NP_001157751.1:p.Gln88Arg
NM_001164280.2:c.482A>G	NP_001157752.1:p.Gln161Arg
NM_001467.6:c.482A>G	NP_001458.1:p.Gln161Arg
NM_001164277.2:c.482A>G MANE Select	NP_001157749.1:p.Gln161Arg