Canonical Allele Identifier: CA522805143

Gene: SLC2A1

Linked Data

• dbSNP Id: rs74068371
• gnomAD v2: 1-43395760-G-A
• gnomAD v3: 1-42930089-G-A
• gnomAD v4: 1-42930089-G-A
• COSMIC: COSN19690789
• MyVariant Identifiers: chr1:g.43395760G>A (hg19) ; chr1:g.42930089G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930089G>A , CM000663.2:g.42930089G>A	GRCh38
NC_000001.10:g.43395760G>A , CM000663.1:g.43395760G>A	GRCh37
NC_000001.9:g.43168347G>A	NCBI36
NG_008232.1:g.34088C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.517-54C>T MANE Select	ENSP00000416293.2:n.517-54C>T
ENST00000674765.1:c.517-54C>T	ENSP00000501811.1:n.517-54C>T
ENST00000675112.1:n.540-54C>T
ENST00000676254.1:n.966-54C>T
ENST00000426263.7:c.517-54C>T	ENSP00000416293.2:n.517-54C>T
ENST00000439722.2:c.396-54C>T	ENSP00000395521.2:n.396-54C>T
ENST00000475162.3:c.415+537C>T
ENST00000630287.2:c.517-309C>T	ENSP00000486694.1:n.517-309C>T
NM_006516.2:c.517-54C>T	NP_006507.2:n.517-54C>T
NM_006516.3:c.517-54C>T	NP_006507.2:n.517-54C>T
NM_006516.4:c.517-54C>T MANE Select	NP_006507.2:n.517-54C>T