Canonical Allele Identifier: CA803542

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 2191228
• ClinVar RCV Id: RCV002628477
• dbSNP Id: rs767332379
• ExAC: 1:43396342 G / A
• gnomAD v2: 1-43396342-G-A
• gnomAD v4: 1-42930671-G-A
• MyVariant Identifiers: chr1:g.43396342G>A (hg19) ; chr1:g.42930671G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930671G>A , CM000663.2:g.42930671G>A	GRCh38
NC_000001.10:g.43396342G>A , CM000663.1:g.43396342G>A	GRCh37
NC_000001.9:g.43168929G>A	NCBI36
NG_008232.1:g.33506C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.471C>T MANE Select	ENSP00000416293.2:p.Gly157=
ENST00000674765.1:c.471C>T	ENSP00000501811.1:p.Gly157=
ENST00000675112.1:n.494C>T
ENST00000676254.1:n.920C>T
ENST00000426263.7:c.471C>T	ENSP00000416293.2:p.Gly157=
ENST00000439722.2:c.350C>T	ENSP00000395521.2:n.350C>T
ENST00000475162.3:c.370C>T
ENST00000625233.2:n.679C>T
ENST00000630287.2:c.471C>T	ENSP00000486694.1:p.Gly157=
NM_006516.2:c.471C>T	NP_006507.2:p.Gly157=
NM_006516.3:c.471C>T	NP_006507.2:p.Gly157=
NM_006516.4:c.471C>T MANE Select	NP_006507.2:p.Gly157=