Canonical Allele Identifier: CA803626

Gene: SLC2A1

Linked Data

• dbSNP Id: rs777738953
• ExAC: 1:43408857 C / G
• gnomAD v2: 1-43408857-C-G
• gnomAD v3: 1-42943186-C-G
• gnomAD v4: 1-42943186-C-G
• MyVariant Identifiers: chr1:g.43408857C>G (hg19) ; chr1:g.42943186C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42943186C>G , CM000663.2:g.42943186C>G	GRCh38
NC_000001.10:g.43408857C>G , CM000663.1:g.43408857C>G	GRCh37
NC_000001.9:g.43181444C>G	NCBI36
NG_008232.1:g.20991G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.114+40G>C MANE Select	ENSP00000416293.2:n.114+40G>C
ENST00000674765.1:c.114+40G>C	ENSP00000501811.1:n.114+40G>C
ENST00000675112.1:n.137+40G>C
ENST00000372500.4:c.19-11980G>C	ENSP00000361578.4:n.19-11980G>C
ENST00000415851.6:n.331+40G>C
ENST00000426263.7:c.114+40G>C	ENSP00000416293.2:n.114+40G>C
ENST00000475162.3:c.13+40G>C
ENST00000625233.2:n.322+40G>C
ENST00000628173.1:n.333+40G>C
ENST00000630287.2:c.114+40G>C	ENSP00000486694.1:n.114+40G>C
ENST00000630821.1:n.371G>C
NM_006516.2:c.114+40G>C	NP_006507.2:n.114+40G>C
NM_006516.3:c.114+40G>C	NP_006507.2:n.114+40G>C
NM_006516.4:c.114+40G>C MANE Select	NP_006507.2:n.114+40G>C