Canonical Allele Identifier: CA735977857

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1273957846
• gnomAD v4: 1-42943174-T-C
• MyVariant Identifiers: chr1:g.43408845T>C (hg19) ; chr1:g.42943174T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42943174T>C , CM000663.2:g.42943174T>C	GRCh38
NC_000001.10:g.43408845T>C , CM000663.1:g.43408845T>C	GRCh37
NC_000001.9:g.43181432T>C	NCBI36
NG_008232.1:g.21003A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.114+52A>G MANE Select	ENSP00000416293.2:n.114+52A>G
ENST00000674765.1:c.114+52A>G	ENSP00000501811.1:n.114+52A>G
ENST00000675112.1:n.137+52A>G
ENST00000372500.4:c.19-11968A>G	ENSP00000361578.4:n.19-11968A>G
ENST00000415851.6:n.331+52A>G
ENST00000426263.7:c.114+52A>G	ENSP00000416293.2:n.114+52A>G
ENST00000475162.3:c.13+52A>G
ENST00000625233.2:n.322+52A>G
ENST00000628173.1:n.333+52A>G
ENST00000630287.2:c.114+52A>G	ENSP00000486694.1:n.114+52A>G
ENST00000630821.1:n.383A>G
NM_006516.2:c.114+52A>G	NP_006507.2:n.114+52A>G
NM_006516.3:c.114+52A>G	NP_006507.2:n.114+52A>G
NM_006516.4:c.114+52A>G MANE Select	NP_006507.2:n.114+52A>G