Canonical Allele Identifier: CA2645198474

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42927862-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927862C>A , CM000663.2:g.42927862C>A	GRCh38
NC_000001.10:g.43393533C>A , CM000663.1:g.43393533C>A	GRCh37
NC_000001.9:g.43166120C>A	NCBI36
NG_008232.1:g.36315G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1075-54G>T MANE Select	ENSP00000416293.2:n.1075-54G>T
ENST00000674545.1:n.1638G>T
ENST00000674765.1:c.1030-1005G>T	ENSP00000501811.1:n.1030-1005G>T
ENST00000675112.1:n.1376-54G>T
ENST00000676254.1:n.1524-54G>T
ENST00000426263.7:c.1075-54G>T	ENSP00000416293.2:n.1075-54G>T
ENST00000475162.3:c.416-884G>T
ENST00000630287.2:c.*390-54G>T	ENSP00000486694.1:n.*390-54G>T
NM_006516.2:c.1075-54G>T	NP_006507.2:n.1075-54G>T
NM_006516.3:c.1075-54G>T	NP_006507.2:n.1075-54G>T
NM_006516.4:c.1075-54G>T MANE Select	NP_006507.2:n.1075-54G>T