Canonical Allele Identifier: CA382905351

Gene: SLC37A4

Linked Data

• gnomAD v4: 11-119028298-A-C
• MyVariant Identifiers: chr11:g.118899008A>C (hg19) ; chr11:g.119028298A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119028298A>C , CM000673.2:g.119028298A>C	GRCh38
NC_000011.9:g.118899008A>C , CM000673.1:g.118899008A>C	GRCh37
NC_000011.8:g.118404218A>C	NCBI36
NG_013331.1:g.7609T>G , LRG_187:g.7609T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.506T>G
ENST00000697845.1:n.430T>G
ENST00000697846.1:n.506T>G
ENST00000697847.1:n.506T>G
ENST00000697848.1:n.506T>G
ENST00000697849.1:n.1545T>G
ENST00000697850.1:n.506T>G
ENST00000697851.1:n.1545T>G
ENST00000638186.1:n.580T>G
ENST00000638360.1:n.514T>G
ENST00000638925.1:n.513T>G
ENST00000650539.1:n.682T>G
ENST00000330775.9:c.277T>G	ENSP00000476242.2:p.Phe93Val
ENST00000357590.9:c.277T>G	ENSP00000476176.2:p.Phe93Val
ENST00000524428.5:n.277T>G
ENST00000525039.5:n.700T>G
ENST00000525102.5:n.1034T>G
ENST00000525372.5:n.277T>G
ENST00000525787.1:n.572T>G
ENST00000526275.5:n.737T>G
ENST00000526626.6:n.344-426T>G
ENST00000527992.5:n.504T>G
ENST00000529510.5:n.295T>G
ENST00000530407.5:n.426T>G
ENST00000532085.1:n.2566T>G
ENST00000532888.6:n.572T>G
ENST00000534384.1:n.497T>G
ENST00000538950.5:c.58T>G	ENSP00000475991.2:p.Phe20Val
ENST00000545985.5:c.277T>G	ENSP00000475241.2:p.Phe93Val
NM_001164277.1:c.277T>G , LRG_187t1:c.277T>G	NP_001157749.1:p.Phe93Val
NM_001164278.1:c.277T>G	NP_001157750.1:p.Phe93Val
NM_001164279.1:c.58T>G	NP_001157751.1:p.Phe20Val
NM_001164280.1:c.277T>G	NP_001157752.1:p.Phe93Val
NM_001467.5:c.277T>G	NP_001458.1:p.Phe93Val
NM_001164278.2:c.277T>G	NP_001157750.1:p.Phe93Val
NM_001164279.2:c.58T>G	NP_001157751.1:p.Phe20Val
NM_001164280.2:c.277T>G	NP_001157752.1:p.Phe93Val
NM_001467.6:c.277T>G	NP_001458.1:p.Phe93Val
NM_001164277.2:c.277T>G MANE Select	NP_001157749.1:p.Phe93Val