Canonical Allele Identifier: CA803441

Gene: SLC2A1

Linked Data

• dbSNP Id: rs755164199
• ExAC: 1:43395234 G / A
• gnomAD v2: 1-43395234-G-A
• gnomAD v4: 1-42929563-G-A
• MyVariant Identifiers: chr1:g.43395234G>A (hg19) ; chr1:g.42929563G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929563G>A , CM000663.2:g.42929563G>A	GRCh38
NC_000001.10:g.43395234G>A , CM000663.1:g.43395234G>A	GRCh37
NC_000001.9:g.43167821G>A	NCBI36
NG_008232.1:g.34614C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.867+30C>T MANE Select	ENSP00000416293.2:n.867+30C>T
ENST00000674765.1:c.867+30C>T	ENSP00000501811.1:n.867+30C>T
ENST00000675112.1:n.920C>T
ENST00000676254.1:n.1316+30C>T
ENST00000426263.7:c.867+30C>T	ENSP00000416293.2:n.867+30C>T
ENST00000439722.2:c.746+30C>T	ENSP00000395521.2:n.746+30C>T
ENST00000475162.3:c.415+1063C>T
ENST00000630287.2:c.*182+30C>T	ENSP00000486694.1:n.*182+30C>T
NM_006516.2:c.867+30C>T	NP_006507.2:n.867+30C>T
NM_006516.3:c.867+30C>T	NP_006507.2:n.867+30C>T
NM_006516.4:c.867+30C>T MANE Select	NP_006507.2:n.867+30C>T