Canonical Allele Identifier: CA019167

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 16111
• ClinVar RCV Id: RCV000017491 ; RCV000081432
• dbSNP Id: rs80359816
• gnomAD v4: 1-42930765-C-T
• MyVariant Identifiers: chr1:g.43396436C>T (hg19) ; chr1:g.42930765C>T (hg38)
• PubMed: PMID:11603379

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930765C>T , CM000663.2:g.42930765C>T	GRCh38
NC_000001.10:g.43396436C>T , CM000663.1:g.43396436C>T	GRCh37
NC_000001.9:g.43169023C>T	NCBI36
NG_008232.1:g.33412G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.377G>A MANE Select	ENSP00000416293.2:p.Arg126His
ENST00000674765.1:c.377G>A	ENSP00000501811.1:p.Arg126His
ENST00000675112.1:n.400G>A
ENST00000676254.1:n.826G>A
ENST00000372500.4:c.281G>A	ENSP00000361578.4:p.Arg94His
ENST00000426263.7:c.377G>A	ENSP00000416293.2:p.Arg126His
ENST00000439722.2:c.256G>A	ENSP00000395521.2:n.256G>A
ENST00000475162.3:c.276G>A
ENST00000625233.2:n.585G>A
ENST00000630287.2:c.377G>A	ENSP00000486694.1:p.Arg126His
NM_006516.2:c.377G>A	NP_006507.2:p.Arg126His
NM_006516.3:c.377G>A	NP_006507.2:p.Arg126His
NM_006516.4:c.377G>A MANE Select	NP_006507.2:p.Arg126His