Canonical Allele Identifier: CA522805057

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1327666530
• gnomAD v2: 1-43394827-G-A
• gnomAD v4: 1-42929156-G-A
• MyVariant Identifiers: chr1:g.43394827G>A (hg19) ; chr1:g.42929156G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929156G>A , CM000663.2:g.42929156G>A	GRCh38
NC_000001.10:g.43394827G>A , CM000663.1:g.43394827G>A	GRCh37
NC_000001.9:g.43167414G>A	NCBI36
NG_008232.1:g.35021C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.972+54C>T MANE Select	ENSP00000416293.2:n.972+54C>T
ENST00000674545.1:n.344C>T
ENST00000674765.1:c.972+54C>T	ENSP00000501811.1:n.972+54C>T
ENST00000675112.1:n.1273+54C>T
ENST00000676254.1:n.1421+54C>T
ENST00000426263.7:c.972+54C>T	ENSP00000416293.2:n.972+54C>T
ENST00000439722.2:c.851+54C>T	ENSP00000395521.2:n.851+54C>T
ENST00000475162.3:c.415+1470C>T
ENST00000630287.2:c.*287+54C>T	ENSP00000486694.1:n.*287+54C>T
NM_006516.2:c.972+54C>T	NP_006507.2:n.972+54C>T
NM_006516.3:c.972+54C>T	NP_006507.2:n.972+54C>T
NM_006516.4:c.972+54C>T MANE Select	NP_006507.2:n.972+54C>T