Canonical Allele Identifier: CA803382

Gene: SLC2A1

Linked Data

• dbSNP Id: rs759782322
• ExAC: 1:43394811 G / A
• gnomAD v2: 1-43394811-G-A
• gnomAD v4: 1-42929140-G-A
• MyVariant Identifiers: chr1:g.43394811G>A (hg19) ; chr1:g.42929140G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929140G>A , CM000663.2:g.42929140G>A	GRCh38
NC_000001.10:g.43394811G>A , CM000663.1:g.43394811G>A	GRCh37
NC_000001.9:g.43167398G>A	NCBI36
NG_008232.1:g.35037C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.972+70C>T MANE Select	ENSP00000416293.2:n.972+70C>T
ENST00000674545.1:n.360C>T
ENST00000674765.1:c.972+70C>T	ENSP00000501811.1:n.972+70C>T
ENST00000675112.1:n.1273+70C>T
ENST00000676254.1:n.1421+70C>T
ENST00000426263.7:c.972+70C>T	ENSP00000416293.2:n.972+70C>T
ENST00000439722.2:c.851+70C>T	ENSP00000395521.2:n.851+70C>T
ENST00000475162.3:c.415+1486C>T
ENST00000630287.2:c.*287+70C>T	ENSP00000486694.1:n.*287+70C>T
NM_006516.2:c.972+70C>T	NP_006507.2:n.972+70C>T
NM_006516.3:c.972+70C>T	NP_006507.2:n.972+70C>T
NM_006516.4:c.972+70C>T MANE Select	NP_006507.2:n.972+70C>T