Canonical Allele Identifier: CA803472

Gene: SLC2A1

Linked Data

• dbSNP Id: rs753613662
• ExAC: 1:43395474 G / T
• gnomAD v2: 1-43395474-G-T
• gnomAD v4: 1-42929803-G-T
• MyVariant Identifiers: chr1:g.43395474G>T (hg19) ; chr1:g.42929803G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929803G>T , CM000663.2:g.42929803G>T	GRCh38
NC_000001.10:g.43395474G>T , CM000663.1:g.43395474G>T	GRCh37
NC_000001.9:g.43168061G>T	NCBI36
NG_008232.1:g.34374C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.680-23C>A MANE Select	ENSP00000416293.2:n.680-23C>A
ENST00000669445.1:c.57-70C>A
ENST00000674765.1:c.680-23C>A	ENSP00000501811.1:n.680-23C>A
ENST00000675112.1:n.703-23C>A
ENST00000676254.1:n.1129-23C>A
ENST00000426263.7:c.680-23C>A	ENSP00000416293.2:n.680-23C>A
ENST00000439722.2:c.559-23C>A	ENSP00000395521.2:n.559-23C>A
ENST00000475162.3:c.415+823C>A
ENST00000630287.2:c.517-23C>A	ENSP00000486694.1:n.517-23C>A
NM_006516.2:c.680-23C>A	NP_006507.2:n.680-23C>A
NM_006516.3:c.680-23C>A	NP_006507.2:n.680-23C>A
NM_006516.4:c.680-23C>A MANE Select	NP_006507.2:n.680-23C>A