Canonical Allele Identifier: CA522805073

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1367479436
• gnomAD v2: 1-43394999-G-T
• gnomAD v4: 1-42929328-G-T
• MyVariant Identifiers: chr1:g.43394999G>T (hg19) ; chr1:g.42929328G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929328G>T , CM000663.2:g.42929328G>T	GRCh38
NC_000001.10:g.43394999G>T , CM000663.1:g.43394999G>T	GRCh37
NC_000001.9:g.43167586G>T	NCBI36
NG_008232.1:g.34849C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.868-14C>A MANE Select	ENSP00000416293.2:n.868-14C>A
ENST00000674545.1:n.172C>A
ENST00000674765.1:c.868-14C>A	ENSP00000501811.1:n.868-14C>A
ENST00000675112.1:n.1155C>A
ENST00000676254.1:n.1317-14C>A
ENST00000426263.7:c.868-14C>A	ENSP00000416293.2:n.868-14C>A
ENST00000439722.2:c.747-14C>A	ENSP00000395521.2:n.747-14C>A
ENST00000475162.3:c.415+1298C>A
ENST00000630287.2:c.*183-14C>A	ENSP00000486694.1:n.*183-14C>A
NM_006516.2:c.868-14C>A	NP_006507.2:n.868-14C>A
NM_006516.3:c.868-14C>A	NP_006507.2:n.868-14C>A
NM_006516.4:c.868-14C>A MANE Select	NP_006507.2:n.868-14C>A