Canonical Allele Identifier: CA382901583

Gene: SLC37A4

Linked Data

• gnomAD v4: 11-119027072-G-C
• MyVariant Identifiers: chr11:g.118897782G>C (hg19) ; chr11:g.119027072G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027072G>C , CM000673.2:g.119027072G>C	GRCh38
NC_000011.9:g.118897782G>C , CM000673.1:g.118897782G>C	GRCh37
NC_000011.8:g.118402992G>C	NCBI36
NG_013331.1:g.8834C>G , LRG_187:g.8834C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.879C>G
ENST00000697845.1:n.803C>G
ENST00000697846.1:n.879C>G
ENST00000697847.1:n.879C>G
ENST00000697848.1:n.879C>G
ENST00000697849.1:n.1918C>G
ENST00000697850.1:n.879C>G
ENST00000697851.1:n.2239C>G
ENST00000638186.1:n.953C>G
ENST00000638360.1:n.785C>G
ENST00000638925.1:n.886C>G
ENST00000650539.1:n.1055C>G
ENST00000330775.9:c.649C>G	ENSP00000476242.2:p.Leu217Val
ENST00000357590.9:c.649C>G	ENSP00000476176.2:p.Leu217Val
ENST00000524428.5:n.971C>G
ENST00000525039.5:n.1073C>G
ENST00000525102.5:n.1407C>G
ENST00000525372.5:n.650C>G
ENST00000526275.5:n.1431C>G
ENST00000526626.6:n.612C>G
ENST00000527992.5:n.877C>G
ENST00000529510.5:n.423C>G
ENST00000530407.5:n.799C>G
ENST00000532085.1:n.3260C>G
ENST00000532888.6:n.945C>G
ENST00000538950.5:c.430C>G	ENSP00000475991.2:p.Leu144Val
ENST00000545985.5:c.649C>G	ENSP00000475241.2:p.Leu217Val
NM_001164277.1:c.649C>G , LRG_187t1:c.649C>G	NP_001157749.1:p.Leu217Val
NM_001164278.1:c.649C>G	NP_001157750.1:p.Leu217Val
NM_001164279.1:c.430C>G	NP_001157751.1:p.Leu144Val
NM_001164280.1:c.649C>G	NP_001157752.1:p.Leu217Val
NM_001467.5:c.649C>G	NP_001458.1:p.Leu217Val
NM_001164278.2:c.649C>G	NP_001157750.1:p.Leu217Val
NM_001164279.2:c.430C>G	NP_001157751.1:p.Leu144Val
NM_001164280.2:c.649C>G	NP_001157752.1:p.Leu217Val
NM_001467.6:c.649C>G	NP_001458.1:p.Leu217Val
NM_001164277.2:c.649C>G MANE Select	NP_001157749.1:p.Leu217Val